Results
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61.
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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. [electronic resource] by
- Auer-Grumbach, Michaela
- Olschewski, Andrea
- Papić, Lea
- Kremer, Hannie
- McEntagart, Meriel E
- Uhrig, Sabine
- Fischer, Carina
- Fröhlich, Eleonore
- Bálint, Zoltán
- Tang, Bi
- Strohmaier, Heimo
- Lochmüller, Hanns
- Schlotter-Weigel, Beate
- Senderek, Jan
- Krebs, Angelika
- Dick, Katherine J
- Petty, Richard
- Longman, Cheryl
- Anderson, Neil E
- Padberg, George W
- Schelhaas, Helenius J
- van Ravenswaaij-Arts, Conny M A
- Pieber, Thomas R
- Crosby, Andrew H
- Guelly, Christian
Producer: 20100217
In:
Nature genetics vol. 42
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62.
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. [electronic resource] by
- de Voer, Richarda M
- Geurts van Kessel, Ad
- Weren, Robbert D A
- Ligtenberg, Marjolijn J L
- Smeets, Dominique
- Fu, Lei
- Vreede, Lilian
- Kamping, Eveline J
- Verwiel, Eugène T P
- Hahn, Marc-Manuel
- Ariaans, Maayke
- Spruijt, Liesbeth
- van Essen, Ton
- Houge, Gunnar
- Schackert, Hans K
- Sheng, Jian Q
- Venselaar, Hanka
- van Ravenswaaij-Arts, Conny M A
- van Krieken, J Han J M
- Hoogerbrugge, Nicoline
- Kuiper, Roland P
Producer: 20131112
In:
Gastroenterology vol. 145
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63.
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GRIN2A-related disorders: genotype and functional consequence predict phenotype. [electronic resource] by
- Strehlow, Vincent
- Heyne, Henrike O
- Vlaskamp, Danique R M
- Marwick, Katie F M
- Rudolf, Gabrielle
- de Bellescize, Julitta
- Biskup, Saskia
- Brilstra, Eva H
- Brouwer, Oebele F
- Callenbach, Petra M C
- Hentschel, Julia
- Hirsch, Edouard
- Kind, Peter C
- Mignot, Cyril
- Platzer, Konrad
- Rump, Patrick
- Skehel, Paul A
- Wyllie, David J A
- Hardingham, Giles E
- van Ravenswaaij-Arts, Conny M A
- Lesca, Gaetan
- Lemke, Johannes R
Producer: 20190820
In:
Brain : a journal of neurology vol. 142
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64.
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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. [electronic resource] by
- Vissers, Lisenka E L M
- de Vries, Bert B A
- Osoegawa, Kazutoyo
- Janssen, Irene M
- Feuth, Ton
- Choy, Chik On
- Straatman, Huub
- van der Vliet, Walter
- Huys, Erik H L P G
- van Rijk, Anke
- Smeets, Dominique
- van Ravenswaaij-Arts, Conny M A
- Knoers, Nine V
- van der Burgt, Ineke
- de Jong, Pieter J
- Brunner, Han G
- van Kessel, Ad Geurts
- Schoenmakers, Eric F P M
- Veltman, Joris A
Producer: 20040206
In:
American journal of human genetics vol. 73
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65.
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None [electronic resource] by
- Vlaskamp, Danique R M
- Shaw, Benjamin J
- Burgess, Rosemary
- Mei, Davide
- Montomoli, Martino
- Xie, Han
- Myers, Candace T
- Bennett, Mark F
- XiangWei, Wenshu
- Williams, Danielle
- Maas, Saskia M
- Brooks, Alice S
- Mancini, Grazia M S
- van de Laar, Ingrid M B H
- van Hagen, Johanna M
- Ware, Tyson L
- Webster, Richard I
- Malone, Stephen
- Berkovic, Samuel F
- Kalnins, Renate M
- Sicca, Federico
- Korenke, G Christoph
- van Ravenswaaij-Arts, Conny M A
- Hildebrand, Michael S
- Mefford, Heather C
- Jiang, Yuwu
- Guerrini, Renzo
- Scheffer, Ingrid E
Producer: 20191016
In:
Neurology vol. 92
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66.
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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. [electronic resource] by
- Witteveen, Josefine S
- Willemsen, Marjolein H
- Dombroski, Thaís C D
- van Bakel, Nick H M
- Nillesen, Willy M
- van Hulten, Josephus A
- Jansen, Eric J R
- Verkaik, Dave
- Veenstra-Knol, Hermine E
- van Ravenswaaij-Arts, Conny M A
- Wassink-Ruiter, Jolien S Klein
- Vincent, Marie
- David, Albert
- Le Caignec, Cedric
- Schieving, Jolanda
- Gilissen, Christian
- Foulds, Nicola
- Rump, Patrick
- Strom, Tim
- Cremer, Kirsten
- Zink, Alexander M
- Engels, Hartmut
- de Munnik, Sonja A
- Visser, Jasper E
- Brunner, Han G
- Martens, Gerard J M
- Pfundt, Rolph
- Kleefstra, Tjitske
- Kolk, Sharon M
Producer: 20170907
In:
Nature genetics vol. 48
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67.
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Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis. [electronic resource] by
- Deelen, Patrick
- van Dam, Sipko
- Herkert, Johanna C
- Karjalainen, Juha M
- Brugge, Harm
- Abbott, Kristin M
- van Diemen, Cleo C
- van der Zwaag, Paul A
- Gerkes, Erica H
- Zonneveld-Huijssoon, Evelien
- Boer-Bergsma, Jelkje J
- Folkertsma, Pytrik
- Gillett, Tessa
- van der Velde, K Joeri
- Kanninga, Roan
- van den Akker, Peter C
- Jan, Sabrina Z
- Hoorntje, Edgar T
- Te Rijdt, Wouter P
- Vos, Yvonne J
- Jongbloed, Jan D H
- van Ravenswaaij-Arts, Conny M A
- Sinke, Richard
- Sikkema-Raddatz, Birgit
- Kerstjens-Frederikse, Wilhelmina S
- Swertz, Morris A
- Franke, Lude
Producer: 20190819
In:
Nature communications vol. 10
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68.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. [electronic resource] by
- Rivière, Jean-Baptiste
- van Bon, Bregje W M
- Hoischen, Alexander
- Kholmanskikh, Stanislav S
- O'Roak, Brian J
- Gilissen, Christian
- Gijsen, Sabine
- Sullivan, Christopher T
- Christian, Susan L
- Abdul-Rahman, Omar A
- Atkin, Joan F
- Chassaing, Nicolas
- Drouin-Garraud, Valerie
- Fry, Andrew E
- Fryns, Jean-Pierre
- Gripp, Karen W
- Kempers, Marlies
- Kleefstra, Tjitske
- Mancini, Grazia M S
- Nowaczyk, Małgorzata J M
- van Ravenswaaij-Arts, Conny M A
- Roscioli, Tony
- Marble, Michael
- Rosenfeld, Jill A
- Siu, Victoria M
- de Vries, Bert B A
- Shendure, Jay
- Verloes, Alain
- Veltman, Joris A
- Brunner, Han G
- Ross, M Elizabeth
- Pilz, Daniela T
- Dobyns, William B
Producer: 20120530
In:
Nature genetics vol. 44
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69.
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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. [electronic resource] by
- Reijnders, Margot R F
- Zachariadis, Vasilios
- Latour, Brooke
- Jolly, Lachlan
- Mancini, Grazia M
- Pfundt, Rolph
- Wu, Ka Man
- van Ravenswaaij-Arts, Conny M A
- Veenstra-Knol, Hermine E
- Anderlid, Britt-Marie M
- Wood, Stephen A
- Cheung, Sau Wai
- Barnicoat, Angela
- Probst, Frank
- Magoulas, Pilar
- Brooks, Alice S
- Malmgren, Helena
- Harila-Saari, Arja
- Marcelis, Carlo M
- Vreeburg, Maaike
- Hobson, Emma
- Sutton, V Reid
- Stark, Zornitza
- Vogt, Julie
- Cooper, Nicola
- Lim, Jiin Ying
- Price, Sue
- Lai, Angeline Hwei Meeng
- Domingo, Deepti
- Reversade, Bruno
- Gecz, Jozef
- Gilissen, Christian
- Brunner, Han G
- Kini, Usha
- Roepman, Ronald
- Nordgren, Ann
- Kleefstra, Tjitske
Producer: 20160622
In:
American journal of human genetics vol. 98
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70.
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. [electronic resource] by
- Fountain, Michael D
- Aten, Emmelien
- Cho, Megan T
- Juusola, Jane
- Walkiewicz, Magdalena A
- Ray, Joseph W
- Xia, Fan
- Yang, Yaping
- Graham, Brett H
- Bacino, Carlos A
- Potocki, Lorraine
- van Haeringen, Arie
- Ruivenkamp, Claudia A L
- Mancias, Pedro
- Northrup, Hope
- Kukolich, Mary K
- Weiss, Marjan M
- van Ravenswaaij-Arts, Conny M A
- Mathijssen, Inge B
- Levesque, Sebastien
- Meeks, Naomi
- Rosenfeld, Jill A
- Lemke, Danielle
- Hamosh, Ada
- Lewis, Suzanne K
- Race, Simone
- Stewart, Laura L
- Hay, Beverly
- Lewis, Andrea M
- Guerreiro, Rita L
- Bras, Jose T
- Martins, Marcia P
- Derksen-Lubsen, Gerarda
- Peeters, Els
- Stumpel, Connie
- Stegmann, Sander
- Bok, Levinus A
- Santen, Gijs W E
- Schaaf, Christian P
Producer: 20171207
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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71.
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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. [electronic resource] by
- Eggers, Stefanie
- Sadedin, Simon
- van den Bergen, Jocelyn A
- Robevska, Gorjana
- Ohnesorg, Thomas
- Hewitt, Jacqueline
- Lambeth, Luke
- Bouty, Aurore
- Knarston, Ingrid M
- Tan, Tiong Yang
- Cameron, Fergus
- Werther, George
- Hutson, John
- O'Connell, Michele
- Grover, Sonia R
- Heloury, Yves
- Zacharin, Margaret
- Bergman, Philip
- Kimber, Chris
- Brown, Justin
- Webb, Nathalie
- Hunter, Matthew F
- Srinivasan, Shubha
- Titmuss, Angela
- Verge, Charles F
- Mowat, David
- Smith, Grahame
- Smith, Janine
- Ewans, Lisa
- Shalhoub, Carolyn
- Crock, Patricia
- Cowell, Chris
- Leong, Gary M
- Ono, Makato
- Lafferty, Antony R
- Huynh, Tony
- Visser, Uma
- Choong, Catherine S
- McKenzie, Fiona
- Pachter, Nicholas
- Thompson, Elizabeth M
- Couper, Jennifer
- Baxendale, Anne
- Gecz, Jozef
- Wheeler, Benjamin J
- Jefferies, Craig
- MacKenzie, Karen
- Hofman, Paul
- Carter, Philippa
- King, Richard I
- Krausz, Csilla
- van Ravenswaaij-Arts, Conny M A
- Looijenga, Leendert
- Drop, Sten
- Riedl, Stefan
- Cools, Martine
- Dawson, Angelika
- Juniarto, Achmad Zulfa
- Khadilkar, Vaman
- Khadilkar, Anuradha
- Bhatia, Vijayalakshmi
- Dũng, Vũ Chí
- Atta, Irum
- Raza, Jamal
- Thi Diem Chi, Nguyen
- Hao, Tran Kiem
- Harley, Vincent
- Koopman, Peter
- Warne, Garry
- Faradz, Sultana
- Oshlack, Alicia
- Ayers, Katie L
- Sinclair, Andrew H
Producer: 20170621
In:
Genome biology vol. 17
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72.
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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
Availability: No items available.
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