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	101.	CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. [electronic resource] by Baldridge, Dustin Schwarze, Ulrike Morello, Roy Lennington, Jennifer Bertin, Terry K Pace, James M Pepin, Melanie G Weis, Maryann Eyre, David R Walsh, Jennifer Lambert, Deborah Green, Andrew Robinson, Haynes Michelson, Melonie Houge, Gunnar Lindman, Carl Martin, Judith Ward, Jewell Lemyre, Emmanuelle Mitchell, John J Krakow, Deborah Rimoin, David L Cohn, Daniel H Byers, Peter H Lee, Brendan Producer: 20090108 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. [electronic resource] by Alanay, Yasemin Avaygan, Hrispima Camacho, Natalia Utine, G Eda Boduroglu, Koray Aktas, Dilek Alikasifoglu, Mehmet Tuncbilek, Ergul Orhan, Diclehan Bakar, Filiz Tiker Zabel, Bernard Superti-Furga, Andrea Bruckner-Tuderman, Leena Curry, Cindy J R Pyott, Shawna Byers, Peter H Eyre, David R Baldridge, Dustin Lee, Brendan Merrill, Amy E Davis, Elaine C Cohn, Daniel H Akarsu, Nurten Krakow, Deborah Producer: 20100422 In: American journal of human genetics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. [electronic resource] by Bicknell, Louise S Farrington-Rock, Claire Shafeghati, Yousef Rump, Patrick Alanay, Yasemin Alembik, Yves Al-Madani, Navid Firth, Helen Karimi-Nejad, Mohammad Hassan Kim, Chong Ae Leask, Kathryn Maisenbacher, Melissa Moran, Ellen Pappas, John G Prontera, Paolo de Ravel, Thomy Fryns, Jean-Pierre Sweeney, Elizabeth Fryer, Alan Unger, Sheila Wilson, L C Lachman, Ralph S Rimoin, David L Cohn, Daniel H Krakow, Deborah Robertson, Stephen P Producer: 20070607 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. [electronic resource] by Krakow, Deborah Robertson, Stephen P King, Lily M Morgan, Timothy Sebald, Eiman T Bertolotto, Cristina Wachsmann-Hogiu, Sebastian Acuna, Dora Shapiro, Sandor S Takafuta, Toshiro Aftimos, Salim Kim, Chong Ae Firth, Helen Steiner, Carlos E Cormier-Daire, Valerie Superti-Furga, Andrea Bonafe, Luisa Graham, John M Grix, Arthur Bacino, Carlos A Allanson, Judith Bialer, Martin G Lachman, Ralph S Rimoin, David L Cohn, Daniel H Producer: 20040816 In: Nature genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	105.	Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. [electronic resource] by Marini, Joan C Forlino, Antonella Cabral, Wayne A Barnes, Aileen M San Antonio, James D Milgrom, Sarah Hyland, James C Körkkö, Jarmo Prockop, Darwin J De Paepe, Anne Coucke, Paul Symoens, Sofie Glorieux, Francis H Roughley, Peter J Lund, Alan M Kuurila-Svahn, Kaija Hartikka, Heini Cohn, Daniel H Krakow, Deborah Mottes, Monica Schwarze, Ulrike Chen, Diana Yang, Kathleen Kuslich, Christine Troendle, James Dalgleish, Raymond Byers, Peter H Producer: 20070316 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	Gender equity in mass drug administration for neglected tropical diseases: data from 16 countries. [electronic resource] by Cohn, Daniel A Kelly, Maureen P Bhandari, Kalpana Zoerhoff, Kathryn L Batcho, Wilfrid E Drabo, François Negussu, Nebiyu Marfo, Benjamin Goepogui, André Lemoine, Jean-Frantz Ganefa, Sitti Massangaie, Marilia Rimal, Pradip Gnandou, Issa Anagbogu, Ifeoma N Ndiaye, Mamadou Bah, Yakuba Madina Mwingira, Upendo J Awoussi, Marcel S Tukahebwa, Edridah M Stelmach, Rachel D Mingkwan, Pia C Pou, Bolivar Koroma, Joseph B Rotondo, Lisa A Kraemer, John D Baker, Margaret C Producer: 20191219 In: International health vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. [electronic resource] by Boyden, Eric D Campos-Xavier, A Belinda Kalamajski, Sebastian Cameron, Trevor L Suarez, Philippe Tanackovic, Goranka Tanackovich, Goranka Andria, Generoso Ballhausen, Diana Briggs, Michael D Hartley, Claire Cohn, Daniel H Davidson, H Rosemarie Hall, Christine Ikegawa, Shiro Jouk, Pierre-Simon König, Rainer Megarbané, André Nishimura, Gen Lachman, Ralph S Mortier, Geert Rimoin, David L Rogers, R Curtis Rossi, Massimiliano Sawada, Hirotake Scott, Richard Unger, Sheila Valadares, Eugenia Ribeiro Bateman, John F Warman, Matthew L Superti-Furga, Andrea Bonafé, Luisa Producer: 20120202 In: American journal of human genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. [electronic resource] by Toriyama, Michinori Lee, Chanjae Taylor, S Paige Duran, Ivan Cohn, Daniel H Bruel, Ange-Line Tabler, Jacqueline M Drew, Kevin Kelly, Marcus R Kim, Sukyoung Park, Tae Joo Braun, Daniela A Pierquin, Ghislaine Biver, Armand Wagner, Kerstin Malfroot, Anne Panigrahi, Inusha Franco, Brunella Al-Lami, Hadeel Adel Yeung, Yvonne Choi, Yeon Ja Duffourd, Yannis Faivre, Laurence Rivière, Jean-Baptiste Chen, Jiang Liu, Karen J Marcotte, Edward M Hildebrandt, Friedhelm Thauvin-Robinet, Christel Krakow, Deborah Jackson, Peter K Wallingford, John B Publication details: Nature genetics 07 2016 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. [electronic resource] by Toriyama, Michinori Lee, Chanjae Taylor, S Paige Duran, Ivan Cohn, Daniel H Bruel, Ange-Line Tabler, Jacqueline M Drew, Kevin Kelly, Marcus R Kim, Sukyoung Park, Tae Joo Braun, Daniela A Pierquin, Ghislaine Biver, Armand Wagner, Kerstin Malfroot, Anne Panigrahi, Inusha Franco, Brunella Al-Lami, Hadeel Adel Yeung, Yvonne Choi, Yeon Ja Duffourd, Yannis Faivre, Laurence Rivière, Jean-Baptiste Chen, Jiang Liu, Karen J Marcotte, Edward M Hildebrandt, Friedhelm Thauvin-Robinet, Christel Krakow, Deborah Jackson, Peter K Wallingford, John B Producer: 20170628 In: Nature genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	Gender and neglected tropical disease front-line workers: Data from 16 countries. [electronic resource] by Shoemaker, Erica A Dale, Kelly Cohn, Daniel A Kelly, Maureen P Zoerhoff, Kathryn L Batcho, Wilfrid E Bougouma, Clarisse Nko'Ayissi, Georges B Meite, Aboulaye Marfo, Benjamin Goepogui, André Telfort, Marc-Aurele Sianipar, Lita Renata Traore, Mahamadou Rimal, Pradip Alfari, Djibo Aichatou Anyaike, Chukwuma Badiane, Fatou N Kargbo-Labour, Ibrahim Mwingira, Upendo J Awoussi, Marcel S Stelmach, Rachel D Smith, Carly L Arney, Jennifer Faramand, Taroub Harb Stukel, Diana M Pou, Bolivar Rotondo, Lisa A Kraemer, John D Baker, Margaret C Producer: 20200320 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. [electronic resource] by Burrage, Lindsay C Reynolds, John J Baratang, Nissan Vida Phillips, Jennifer B Wegner, Jeremy McFarquhar, Ashley Higgs, Martin R Christiansen, Audrey E Lanza, Denise G Seavitt, John R Jain, Mahim Li, Xiaohui Parry, David A Raman, Vandana Chitayat, David Chinn, Ivan K Bertuch, Alison A Karaviti, Lefkothea Schlesinger, Alan E Earl, Dawn Bamshad, Michael Savarirayan, Ravi Doddapaneni, Harsha Muzny, Donna Jhangiani, Shalini N Eng, Christine M Gibbs, Richard A Bi, Weimin Emrick, Lisa Rosenfeld, Jill A Postlethwait, John Westerfield, Monte Dickinson, Mary E Beaudet, Arthur L Ranza, Emmanuelle Huber, Celine Cormier-Daire, Valérie Shen, Wei Mao, Rong Heaney, Jason D Orange, Jordan S Bertola, Débora Yamamoto, Guilherme L Baratela, Wagner A R Butler, Merlin G Ali, Asim Adeli, Mehdi Cohn, Daniel H Krakow, Deborah Jackson, Andrew P Lees, Melissa Offiah, Amaka C Carlston, Colleen M Carey, John C Stewart, Grant S Bacino, Carlos A Campeau, Philippe M Lee, Brendan Producer: 20191218 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)

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