Results of search for 'au:"Deardorff, Matthew A"' › مکتبة رقمیه للعلوم الطبيه catalog

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	81.	Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. [electronic resource] by Chen, Rong Shi, Lisong Hakenberg, Jörg Naughton, Brian Sklar, Pamela Zhang, Jianguo Zhou, Hanlin Tian, Lifeng Prakash, Om Lemire, Mathieu Sleiman, Patrick Cheng, Wei-Yi Chen, Wanting Shah, Hardik Shen, Yulan Fromer, Menachem Omberg, Larsson Deardorff, Matthew A Zackai, Elaine Bobe, Jason R Levin, Elissa Hudson, Thomas J Groop, Leif Wang, Jun Hakonarson, Hakon Wojcicki, Anne Diaz, George A Edelmann, Lisa Schadt, Eric E Friend, Stephen H Producer: 20170605 In: Nature biotechnology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. [electronic resource] by Zollino, Marcella Marangi, Giuseppe Ponzi, Emanuela Orteschi, Daniela Ricciardi, Stefania Lattante, Serena Murdolo, Marina Battaglia, Domenica Contaldo, Ilaria Mercuri, Eugenio Stefanini, Maria Chiara Caumes, Roseline Edery, Patrick Rossi, Massimiliano Piccione, Maria Corsello, Giovanni Della Monica, Matteo Scarano, Francesca Priolo, Manuela Gentile, Mattia Zampino, Giuseppe Vijzelaar, Raymon Abdulrahman, Omar Rauch, Anita Oneda, Beatrice Deardorff, Matthew A Saitta, Sulagna C Falk, Marni J Dubbs, Holly Zackai, Elaine Producer: 20160912 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions. [electronic resource] by Aref-Eshghi, Erfan Bend, Eric G Colaiacovo, Samantha Caudle, Michelle Chakrabarti, Rana Napier, Melanie Brick, Lauren Brady, Lauren Carere, Deanna Alexis Levy, Michael A Kerkhof, Jennifer Stuart, Alan Saleh, Maha Beaudet, Arthur L Li, Chumei Kozenko, Maryia Karp, Natalya Prasad, Chitra Siu, Victoria Mok Tarnopolsky, Mark A Ainsworth, Peter J Lin, Hanxin Rodenhiser, David I Krantz, Ian D Deardorff, Matthew A Schwartz, Charles E Sadikovic, Bekim Producer: 20200203 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016. [electronic resource] by Kline, Antonie D Krantz, Ian D Deardorff, Matthew A Shirahige, Katsuhiko Dorsett, Dale Gerton, Jennifer L Wu, Meng Mehta, Devanshi Mills, Jason A Carrico, Cheri S Noon, Sarah Herrera, Pamela S Horsfield, Julia A Bettale, Chiara Morgan, Jeremy Huisman, Sylvia A Moss, Jo McCleery, Joseph Grados, Marco Hansen, Blake D Srivastava, Siddharth Taylor-Snell, Emily Kerr, Lynne M Katz, Olivia Calof, Anne L Musio, Antonio Egense, Alena Haaland, Richard E Producer: 20170508 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. [electronic resource] by Xia, Fan Bainbridge, Matthew N Tan, Tiong Yang Wangler, Michael F Scheuerle, Angela E Zackai, Elaine H Harr, Margaret H Sutton, V Reid Nalam, Roopa L Zhu, Wenmiao Nash, Margot Ryan, Monique M Yaplito-Lee, Joy Hunter, Jill V Deardorff, Matthew A Penney, Samantha J Beaudet, Arthur L Plon, Sharon E Boerwinkle, Eric A Lupski, James R Eng, Christine M Muzny, Donna M Yang, Yaping Gibbs, Richard A Producer: 20140627 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	RAD21 mutations cause a human cohesinopathy. [electronic resource] by Deardorff, Matthew A Wilde, Jonathan J Albrecht, Melanie Dickinson, Emma Tennstedt, Stephanie Braunholz, Diana Mönnich, Maren Yan, Yuqian Xu, Weizhen Gil-Rodríguez, María Concepcion Clark, Dinah Hakonarson, Hakon Halbach, Sara Michelis, Laura Daniela Rampuria, Abhinav Rossier, Eva Spranger, Stephanie Van Maldergem, Lionel Lynch, Sally Ann Gillessen-Kaesbach, Gabriele Lüdecke, Hermann-Josef Ramsay, Robert G McKay, Michael J Krantz, Ian D Xu, Huiling Horsfield, Julia A Kaiser, Frank J Producer: 20120823 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium. [electronic resource] by Kline, Antonie D Calof, Anne L Lander, Arthur D Gerton, Jennifer L Krantz, Ian D Dorsett, Dale Deardorff, Matthew A Blagowidow, Natalie Yokomori, Kyoko Shirahige, Katsuhiko Santos, Rosaysela Woodman, Julie Megee, Paul C O'Connor, Julia T Egense, Alena Noon, Sarah Belote, Maurice Goodban, Marjorie T Hansen, Blake D Timmons, Jenni Glad Musio, Antonio Ishman, Stacey L Bryan, Yvon Wu, Yaning Bettini, Laura R Mehta, Devanshi Zakari, Musinu Mills, Jason A Srivastava, Siddharth Haaland, Richard E Producer: 20160219 In: American journal of medical genetics. Part A vol. 167 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	Automated Clinical Exome Reanalysis Reveals Novel Diagnoses. [electronic resource] by Baker, Samuel W Murrell, Jill R Nesbitt, Addie I Pechter, Kieran B Balciuniene, Jorune Zhao, Xiaonan Yu, Zhenming Denenberg, Elizabeth H DeChene, Elizabeth T Wilkens, Alisha B Bhoj, Elizabeth J Guan, Qiaoning Dulik, Matthew C Conlin, Laura K Abou Tayoun, Ahmad N Luo, Minjie Wu, Chao Cao, Kajia Sarmady, Mahdi Bedoukian, Emma C Tarpinian, Jennifer Medne, Livija Skraban, Cara M Deardorff, Matthew A Krantz, Ian D Krock, Bryan L Santani, Avni B Producer: 20200618 In: The Journal of molecular diagnostics : JMD vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. [electronic resource] by Deardorff, Matthew A Bando, Masashige Nakato, Ryuichiro Watrin, Erwan Itoh, Takehiko Minamino, Masashi Saitoh, Katsuya Komata, Makiko Katou, Yuki Clark, Dinah Cole, Kathryn E De Baere, Elfride Decroos, Christophe Di Donato, Nataliya Ernst, Sarah Francey, Lauren J Gyftodimou, Yolanda Hirashima, Kyotaro Hullings, Melanie Ishikawa, Yuuichi Jaulin, Christian Kaur, Maninder Kiyono, Tohru Lombardi, Patrick M Magnaghi-Jaulin, Laura Mortier, Geert R Nozaki, Naohito Petersen, Michael B Seimiya, Hiroyuki Siu, Victoria M Suzuki, Yutaka Takagaki, Kentaro Wilde, Jonathan J Willems, Patrick J Prigent, Claude Gillessen-Kaesbach, Gabriele Christianson, David W Kaiser, Frank J Jackson, Laird G Hirota, Toru Krantz, Ian D Shirahige, Katsuhiko Producer: 20121105 In: Nature vol. 489 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. [electronic resource] by Schoch, Kelly Meng, Linyan Szelinger, Szabolcs Bearden, David R Stray-Pedersen, Asbjorg Busk, Oyvind L Stong, Nicholas Liston, Eriskay Cohn, Ronald D Scaglia, Fernando Rosenfeld, Jill A Tarpinian, Jennifer Skraban, Cara M Deardorff, Matthew A Friedman, Jeremy N Akdemir, Zeynep Coban Walley, Nicole Mikati, Mohamad A Kranz, Peter G Jasien, Joan McConkie-Rosell, Allyn McDonald, Marie Wechsler, Stephanie Burns Freemark, Michael Kansagra, Sujay Freedman, Sharon Bali, Deeksha Millan, Francisca Bale, Sherri Nelson, Stanley F Lee, Hane Dorrani, Naghmeh Goldstein, David B Xiao, Rui Yang, Yaping Posey, Jennifer E Martinez-Agosto, Julian A Lupski, James R Wangler, Michael F Shashi, Vandana Producer: 20170504 In: American journal of human genetics vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	A mosaic activating mutation in AKT1 associated with the Proteus syndrome. [electronic resource] by Lindhurst, Marjorie J Sapp, Julie C Teer, Jamie K Johnston, Jennifer J Finn, Erin M Peters, Kathryn Turner, Joyce Cannons, Jennifer L Bick, David Blakemore, Laurel Blumhorst, Catherine Brockmann, Knut Calder, Peter Cherman, Natasha Deardorff, Matthew A Everman, David B Golas, Gretchen Greenstein, Robert M Kato, B Maya Keppler-Noreuil, Kim M Kuznetsov, Sergei A Miyamoto, Richard T Newman, Kurt Ng, David O'Brien, Kevin Rothenberg, Steven Schwartzentruber, Douglas J Singhal, Virender Tirabosco, Roberto Upton, Joseph Wientroub, Shlomo Zackai, Elaine H Hoag, Kimberly Whitewood-Neal, Tracey Robey, Pamela G Schwartzberg, Pamela L Darling, Thomas N Tosi, Laura L Mullikin, James C Biesecker, Leslie G Producer: 20110825 In: The New England journal of medicine vol. 365 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	92.	Recommendations for the integration of genomics into clinical practice. [electronic resource] by Bowdin, Sarah Gilbert, Adel Bedoukian, Emma Carew, Christopher Adam, Margaret P Belmont, John Bernhardt, Barbara Biesecker, Leslie Bjornsson, Hans T Blitzer, Miriam D'Alessandro, Lisa C A Deardorff, Matthew A Demmer, Laurie Elliott, Alison Feldman, Gerald L Glass, Ian A Herman, Gail Hindorff, Lucia Hisama, Fuki Hudgins, Louanne Innes, A Micheil Jackson, Laird Jarvik, Gail Kim, Raymond Korf, Bruce Ledbetter, David H Li, Mindy Liston, Eriskay Marshall, Christian Medne, Livija Meyn, M Stephen Monfared, Nasim Morton, Cynthia Mulvihill, John J Plon, Sharon E Rehm, Heidi Roberts, Amy Shuman, Cheryl Spinner, Nancy B Stavropoulos, D James Valverde, Kathleen Waggoner, Darrel J Wilkens, Alisha Cohn, Ronald D Krantz, Ian D Producer: 20170915 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. [electronic resource] by Skraban, Cara M Wells, Constance F Markose, Preetha Cho, Megan T Nesbitt, Addie I Au, P Y Billie Begtrup, Amber Bernat, John A Bird, Lynne M Cao, Kajia de Brouwer, Arjan P M Denenberg, Elizabeth H Douglas, Ganka Gibson, Kristin M Grand, Katheryn Goldenberg, Alice Innes, A Micheil Juusola, Jane Kempers, Marlies Kinning, Esther Markie, David M Owens, Martina M Payne, Katelyn Person, Richard Pfundt, Rolph Stocco, Amber Turner, Claire L S Verbeek, Nienke E Walsh, Laurence E Warner, Taylor C Wheeler, Patricia G Wieczorek, Dagmar Wilkens, Alisha B Zonneveld-Huijssoon, Evelien Kleefstra, Tjitske Robertson, Stephen P Santani, Avni van Gassen, Koen L I Deardorff, Matthew A Producer: 20170802 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	Phenotypes and genotypes in individuals with SMC1A variants. [electronic resource] by Huisman, Sylvia Mulder, Paul A Redeker, Egbert Bader, Ingrid Bisgaard, Anne-Marie Brooks, Alice Cereda, Anna Cinca, Constanza Clark, Dinah Cormier-Daire, Valerie Deardorff, Matthew A Diderich, Karin Elting, Mariet van Essen, Anthonie FitzPatrick, David Gervasini, Cristina Gillessen-Kaesbach, Gabriele Girisha, Katta M Hilhorst-Hofstee, Yvonne Hopman, Saskia Horn, Denise Isrie, Mala Jansen, Sandra Jespersgaard, Cathrine Kaiser, Frank J Kaur, Maninder Kleefstra, Tjitske Krantz, Ian D Lakeman, Phillis Landlust, Annemiek Lessel, Davor Michot, Caroline Moss, Jo Noon, Sarah E Oliver, Chris Parenti, Ilaria Pie, Juan Ramos, Feliciano J Rieubland, Claudine Russo, Silvia Selicorni, Angelo Tümer, Zeynep Vorstenbosch, Rieneke Wenger, Tara L van Balkom, Ingrid Piening, Sigrid Wierzba, Jolanta Hennekam, Raoul C Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	95.	Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. [electronic resource] by Kline, Antonie D Moss, Joanna F Selicorni, Angelo Bisgaard, Anne-Marie Deardorff, Matthew A Gillett, Peter M Ishman, Stacey L Kerr, Lynne M Levin, Alex V Mulder, Paul A Ramos, Feliciano J Wierzba, Jolanta Ajmone, Paola Francesca Axtell, David Blagowidow, Natalie Cereda, Anna Costantino, Antonella Cormier-Daire, Valerie FitzPatrick, David Grados, Marco Groves, Laura Guthrie, Whitney Huisman, Sylvia Kaiser, Frank J Koekkoek, Gerritjan Levis, Mary Mariani, Milena McCleery, Joseph P Menke, Leonie A Metrena, Amy O'Connor, Julia Oliver, Chris Pie, Juan Piening, Sigrid Potter, Carol J Quaglio, Ana L Redeker, Egbert Richman, David Rigamonti, Claudia Shi, Angell Tümer, Zeynep Van Balkom, Ingrid D C Hennekam, Raoul C Producer: 20190716 In: Nature reviews. Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. [electronic resource] by Van Houdt, Jeroen K J Nowakowska, Beata Anna Sousa, Sérgio B van Schaik, Barbera D C Seuntjens, Eve Avonce, Nelson Sifrim, Alejandro Abdul-Rahman, Omar A van den Boogaard, Marie-José H Bottani, Armand Castori, Marco Cormier-Daire, Valérie Deardorff, Matthew A Filges, Isabel Fryer, Alan Fryns, Jean-Pierre Gana, Simone Garavelli, Livia Gillessen-Kaesbach, Gabriele Hall, Bryan D Horn, Denise Huylebroeck, Danny Klapecki, Jakub Krajewska-Walasek, Malgorzata Kuechler, Alma Lines, Matthew A Maas, Saskia Macdermot, Kay D McKee, Shane Magee, Alex de Man, Stella A Moreau, Yves Morice-Picard, Fanny Obersztyn, Ewa Pilch, Jacek Rosser, Elizabeth Shannon, Nora Stolte-Dijkstra, Irene Van Dijck, Patrick Vilain, Catheline Vogels, Annick Wakeling, Emma Wieczorek, Dagmar Wilson, Louise Zuffardi, Orsetta van Kampen, Antoine H C Devriendt, Koenraad Hennekam, Raoul Vermeesch, Joris Robert Producer: 20120530 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. [electronic resource] by Girirajan, Santhosh Rosenfeld, Jill A Cooper, Gregory M Antonacci, Francesca Siswara, Priscillia Itsara, Andy Vives, Laura Walsh, Tom McCarthy, Shane E Baker, Carl Mefford, Heather C Kidd, Jeffrey M Browning, Sharon R Browning, Brian L Dickel, Diane E Levy, Deborah L Ballif, Blake C Platky, Kathryn Farber, Darren M Gowans, Gordon C Wetherbee, Jessica J Asamoah, Alexander Weaver, David D Mark, Paul R Dickerson, Jennifer Garg, Bhuwan P Ellingwood, Sara A Smith, Rosemarie Banks, Valerie C Smith, Wendy McDonald, Marie T Hoo, Joe J French, Beatrice N Hudson, Cindy Johnson, John P Ozmore, Jillian R Moeschler, John B Surti, Urvashi Escobar, Luis F El-Khechen, Dima Gorski, Jerome L Kussmann, Jennifer Salbert, Bonnie Lacassie, Yves Biser, Alisha McDonald-McGinn, Donna M Zackai, Elaine H Deardorff, Matthew A Shaikh, Tamim H Haan, Eric Friend, Kathryn L Fichera, Marco Romano, Corrado Gécz, Jozef DeLisi, Lynn E Sebat, Jonathan King, Mary-Claire Shaffer, Lisa G Eichler, Evan E Producer: 20100415 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	98.	De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. [electronic resource] by Gil-Rodríguez, María Concepción Deardorff, Matthew A Ansari, Morad Tan, Christopher A Parenti, Ilaria Baquero-Montoya, Carolina Ousager, Lilian B Puisac, Beatriz Hernández-Marcos, María Teresa-Rodrigo, María Esperanza Marcos-Alcalde, Iñigo Wesselink, Jan-Jaap Lusa-Bernal, Silvia Bijlsma, Emilia K Braunholz, Diana Bueno-Martinez, Inés Clark, Dinah Cooper, Nicola S Curry, Cynthia J Fisher, Richard Fryer, Alan Ganesh, Jaya Gervasini, Cristina Gillessen-Kaesbach, Gabriele Guo, Yiran Hakonarson, Hakon Hopkin, Robert J Kaur, Maninder Keating, Brendan J Kibaek, María Kinning, Esther Kleefstra, Tjitske Kline, Antonie D Kuchinskaya, Ekaterina Larizza, Lidia Li, Yun R Liu, Xuanzhu Mariani, Milena Picker, Jonathan D Pié, Ángeles Pozojevic, Jelena Queralt, Ethel Richer, Julie Roeder, Elizabeth Sinha, Anubha Scott, Richard H So, Joyce Wusik, Katherine A Wilson, Louise Zhang, Jianguo Gómez-Puertas, Paulino Casale, César H Ström, Lena Selicorni, Angelo Ramos, Feliciano J Jackson, Laird G Krantz, Ian D Das, Soma Hennekam, Raoul C M Kaiser, Frank J FitzPatrick, David R Pié, Juan Producer: 20151217 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. [electronic resource] by Kaiser, Frank J Ansari, Morad Braunholz, Diana Concepción Gil-Rodríguez, María Decroos, Christophe Wilde, Jonathan J Fincher, Christopher T Kaur, Maninder Bando, Masashige Amor, David J Atwal, Paldeep S Bahlo, Melanie Bowman, Christine M Bradley, Jacquelyn J Brunner, Han G Clark, Dinah Del Campo, Miguel Di Donato, Nataliya Diakumis, Peter Dubbs, Holly Dyment, David A Eckhold, Juliane Ernst, Sarah Ferreira, Jose C Francey, Lauren J Gehlken, Ulrike Guillén-Navarro, Encarna Gyftodimou, Yolanda Hall, Bryan D Hennekam, Raoul Hudgins, Louanne Hullings, Melanie Hunter, Jennifer M Yntema, Helger Innes, A Micheil Kline, Antonie D Krumina, Zita Lee, Hane Leppig, Kathleen Lynch, Sally Ann Mallozzi, Mark B Mannini, Linda McKee, Shane Mehta, Sarju G Micule, Ieva Mohammed, Shehla Moran, Ellen Mortier, Geert R Moser, Joe-Ann S Noon, Sarah E Nozaki, Naohito Nunes, Luis Pappas, John G Penney, Lynette S Pérez-Aytés, Antonio Petersen, Michael B Puisac, Beatriz Revencu, Nicole Roeder, Elizabeth Saitta, Sulagna Scheuerle, Angela E Schindeler, Karen L Siu, Victoria M Stark, Zornitza Strom, Samuel P Thiese, Heidi Vater, Inga Willems, Patrick Williamson, Kathleen Wilson, Louise C Hakonarson, Hakon Quintero-Rivera, Fabiola Wierzba, Jolanta Musio, Antonio Gillessen-Kaesbach, Gabriele Ramos, Feliciano J Jackson, Laird G Shirahige, Katsuhiko Pié, Juan Christianson, David W Krantz, Ian D Fitzpatrick, David R Deardorff, Matthew A Producer: 20150112 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	100.	The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by Redin, Claire Brand, Harrison Collins, Ryan L Kammin, Tammy Mitchell, Elyse Hodge, Jennelle C Hanscom, Carrie Pillalamarri, Vamsee Seabra, Catarina M Abbott, Mary-Alice Abdul-Rahman, Omar A Aberg, Erika Adley, Rhett Alcaraz-Estrada, Sofia L Alkuraya, Fowzan S An, Yu Anderson, Mary-Anne Antolik, Caroline Anyane-Yeboa, Kwame Atkin, Joan F Bartell, Tina Bernstein, Jonathan A Beyer, Elizabeth Blumenthal, Ian Bongers, Ernie M H F Brilstra, Eva H Brown, Chester W Brüggenwirth, Hennie T Callewaert, Bert Chiang, Colby Corning, Ken Cox, Helen Cuppen, Edwin Currall, Benjamin B Cushing, Tom David, Dezso Deardorff, Matthew A Dheedene, Annelies D'Hooghe, Marc de Vries, Bert B A Earl, Dawn L Ferguson, Heather L Fisher, Heather FitzPatrick, David R Gerrol, Pamela Giachino, Daniela Glessner, Joseph T Gliem, Troy Grady, Margo Graham, Brett H Griffis, Cristin Gripp, Karen W Gropman, Andrea L Hanson-Kahn, Andrea Harris, David J Hayden, Mark A Hill, Rosamund Hochstenbach, Ron Hoffman, Jodi D Hopkin, Robert J Hubshman, Monika W Innes, A Micheil Irons, Mira Irving, Melita Jacobsen, Jessie C Janssens, Sandra Jewett, Tamison Johnson, John P Jongmans, Marjolijn C Kahler, Stephen G Koolen, David A Korzelius, Jerome Kroisel, Peter M Lacassie, Yves Lawless, William Lemyre, Emmanuelle Leppig, Kathleen Levin, Alex V Li, Haibo Li, Hong Liao, Eric C Lim, Cynthia Lose, Edward J Lucente, Diane Macera, Michael J Manavalan, Poornima Mandrile, Giorgia Marcelis, Carlo L Margolin, Lauren Mason, Tamara Masser-Frye, Diane McClellan, Michael W Mendoza, Cinthya J Zepeda Menten, Björn Middelkamp, Sjors Mikami, Liya R Moe, Emily Mohammed, Shehla Mononen, Tarja Mortenson, Megan E Moya, Graciela Nieuwint, Aggie W Ordulu, Zehra Parkash, Sandhya Pauker, Susan P Pereira, Shahrin Perrin, Danielle Phelan, Katy Aguilar, Raul E Piña Poddighe, Pino J Pregno, Giulia Raskin, Salmo Reis, Linda Rhead, William Rita, Debra Renkens, Ivo Roelens, Filip Ruliera, Jayla Rump, Patrick Schilit, Samantha L P Shaheen, Ranad Sparkes, Rebecca Spiegel, Erica Stevens, Blair Stone, Matthew R Tagoe, Julia Thakuria, Joseph V van Bon, Bregje W van de Kamp, Jiddeke van Der Burgt, Ineke van Essen, Ton van Ravenswaaij-Arts, Conny M van Roosmalen, Markus J Vergult, Sarah Volker-Touw, Catharina M L Warburton, Dorothy P Waterman, Matthew J Wiley, Susan Wilson, Anna Yerena-de Vega, Maria de la Concepcion A Zori, Roberto T Levy, Brynn Brunner, Han G de Leeuw, Nicole Kloosterman, Wigard P Thorland, Erik C Morton, Cynthia C Gusella, James F Talkowski, Michael E Producer: 20170907 In: Nature genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by

Redin, Claire
Brand, Harrison
Collins, Ryan L
Kammin, Tammy
Mitchell, Elyse
Hodge, Jennelle C
Hanscom, Carrie
Pillalamarri, Vamsee
Seabra, Catarina M
Abbott, Mary-Alice
Abdul-Rahman, Omar A
Aberg, Erika
Adley, Rhett
Alcaraz-Estrada, Sofia L
Alkuraya, Fowzan S
An, Yu
Anderson, Mary-Anne
Antolik, Caroline
Anyane-Yeboa, Kwame
Atkin, Joan F
Bartell, Tina
Bernstein, Jonathan A
Beyer, Elizabeth
Blumenthal, Ian
Bongers, Ernie M H F
Brilstra, Eva H
Brown, Chester W
Brüggenwirth, Hennie T
Callewaert, Bert
Chiang, Colby
Corning, Ken
Cox, Helen
Cuppen, Edwin
Currall, Benjamin B
Cushing, Tom
David, Dezso
Deardorff, Matthew A
Dheedene, Annelies
D'Hooghe, Marc
de Vries, Bert B A
Earl, Dawn L
Ferguson, Heather L
Fisher, Heather
FitzPatrick, David R
Gerrol, Pamela
Giachino, Daniela
Glessner, Joseph T
Gliem, Troy
Grady, Margo
Graham, Brett H
Griffis, Cristin
Gripp, Karen W
Gropman, Andrea L
Hanson-Kahn, Andrea
Harris, David J
Hayden, Mark A
Hill, Rosamund
Hochstenbach, Ron
Hoffman, Jodi D
Hopkin, Robert J
Hubshman, Monika W
Innes, A Micheil
Irons, Mira
Irving, Melita
Jacobsen, Jessie C
Janssens, Sandra
Jewett, Tamison
Johnson, John P
Jongmans, Marjolijn C
Kahler, Stephen G
Koolen, David A
Korzelius, Jerome
Kroisel, Peter M
Lacassie, Yves
Lawless, William
Lemyre, Emmanuelle
Leppig, Kathleen
Levin, Alex V
Li, Haibo
Li, Hong
Liao, Eric C
Lim, Cynthia
Lose, Edward J
Lucente, Diane
Macera, Michael J
Manavalan, Poornima
Mandrile, Giorgia
Marcelis, Carlo L
Margolin, Lauren
Mason, Tamara
Masser-Frye, Diane
McClellan, Michael W
Mendoza, Cinthya J Zepeda
Menten, Björn
Middelkamp, Sjors
Mikami, Liya R
Moe, Emily
Mohammed, Shehla
Mononen, Tarja
Mortenson, Megan E
Moya, Graciela
Nieuwint, Aggie W
Ordulu, Zehra
Parkash, Sandhya
Pauker, Susan P
Pereira, Shahrin
Perrin, Danielle
Phelan, Katy
Aguilar, Raul E Piña
Poddighe, Pino J
Pregno, Giulia
Raskin, Salmo
Reis, Linda
Rhead, William
Rita, Debra
Renkens, Ivo
Roelens, Filip
Ruliera, Jayla
Rump, Patrick
Schilit, Samantha L P
Shaheen, Ranad
Sparkes, Rebecca
Spiegel, Erica
Stevens, Blair
Stone, Matthew R
Tagoe, Julia
Thakuria, Joseph V
van Bon, Bregje W
van de Kamp, Jiddeke
van Der Burgt, Ineke
van Essen, Ton
van Ravenswaaij-Arts, Conny M
van Roosmalen, Markus J
Vergult, Sarah
Volker-Touw, Catharina M L
Warburton, Dorothy P
Waterman, Matthew J
Wiley, Susan
Wilson, Anna
Yerena-de Vega, Maria de la Concepcion A
Zori, Roberto T
Levy, Brynn
Brunner, Han G
de Leeuw, Nicole
Kloosterman, Wigard P
Thorland, Erik C
Morton, Cynthia C
Gusella, James F
Talkowski, Michael E

Producer: 20170907 In: Nature genetics vol. 49

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