未登录 Neutral Endopeptidase-Resistant C-Type Natriuretic Peptide Variant Represents a New Therapeutic Approach for Treatment of Fibroblast Growth Factor Receptor 3-Related Dwarfism Wendt, Daniel J.; Dvorak-Ewell, Melita; Bullens, Sherry; Lorget, Florence; Bell, Sean M.; Peng, Jeff; Castillo, Sianna; Aoyagi-Scharber, Mika; O'Neill, Charles A.; Krejci, Pavel; Wilcox, William R.; Rimoin, David L.; Bunting, Stuart 分享 收藏
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia Huber, Celine; Wu, Sulin; Kim, Ashley S.; Sigaudy, Sabine; Sarukhanov, Anna; Serre, Valerie; Baujat, Genevieve; Le Quan Sang, Kim-Hanh; Rimoin, David L.; Cohn, Daniel H.; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valerie 分享 收藏
Human Long Bone Development in Vivo: Analysis of the Distal Femoral Epimetaphysis on MR Images of Fetuses Nemec, Ursula; Nemec, Stefan F.; Weber, Michael; Brugger, Peter C.; Kasprian, Gregor; Bettelheim, Dieter; Rimoin, David L.; Lachman, Ralph S.; Malinger, Gustavo; Prayer, Daniela 分享 收藏
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A Reinstein, Eyal; Frentz, Sophia; Morgan, Tim; Garcia-Minaur, Sixto; Leventer, Richard J.; McGillivray, George; Pariani, Mitchel; van der Steen, Anthony; Pope, Michael; Holder-Espinasse, Muriel; Scott, Richard; Thompson, Elizabeth M.; Robertson, Terry; Coppin, Brian; Siegel, Robert; Bret Zurita, Montserrat; Rodriguez, Jose I.; Morales, Carmen; Rodrigues, Yuri; Arcas, Joaquin; Saggar, Anand; Horton, Margaret; Zackai, Elaine; Graham, John M.; Rimoin, David L.; Robertson, Stephen P. 分享 收藏
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Ovarian cysts on prenatal MRI Nemec, Ursula; Nemec, Stefan F.; Bettelheim, Dieter; Brugger, Peter C.; Horcher, Ernst; Schoepf, Veronika; Graham, John M., Jr.; Rimoin, David L.; Weber, Michael; Prayer, Daniela 分享 收藏
Human variome project country nodes: Documenting genetic information within a country Patrinos, George P.; Smith, Timothy D.; Howard, Heather; Al-Mulla, Fand; Chouchane, Lotfi; Hadjisavvas, Andreas; Hamed, Sherifa A.; Li, Xi-Tao; Marafie, Makia; Ramesar, Rajkumar S.; Ramos, Feliciano J.; de Rave, Thomy; El-Ruby, Mona O.; Shrestha, Tilak Ram; Sobrido, Maria-Jess; Tadmouri, Ghazi; Witsch-Baumgartner, Martina; Zilfali, Bin Alwi; Auerbach, Arleen D.; Carpenter, Kevin; Cutting, Garry R.; Vu Chi Dung; Grody, Wayne; Hasler, Julia; Jorde, Lynn; Kaput, Jim; Macek, Milan; Matsubara, Yoichi; Padilla, Carmancita; Robinson, Helen; Rojas-Martinez, Augusto; Taylor, Graham R.; Vihinen, Mauno; Weber, Tom; Burn, John; Qi, Ming; Cotton, Richard G. H.; Rimoin, David 分享 收藏
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Situs anomalies on prenatal MRI Nemec, Stefan F.; Brugger, Peter C.; Nemec, Ursula; Bettelheim, Dieter; Kasprian, Gregor; Amann, Gabriele; Rimoin, David L.; Graham, John M., Jr.; Prayer, Daniela 分享 收藏
Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis Lee, Hane; Graham, John M., Jr.; Rimoin, David L.; Lachman, Ralph S.; Krejci, Pavel; Tompson, Stuart W.; Nelson, Stanley F.; Krakow, Deborah; Cohn, Daniel H. 分享 收藏
Penile biometry on prenatal magnetic resonance imaging Nemec, S. F.; Nemec, U.; Weber, M.; Brugger, P. C.; Bettelheim, D.; Rotmensch, S.; Krestan, C. R.; Rimoin, D. L.; Graham, J. M., Jr.; Prayer, D. 分享 收藏
Tumor disease and associated congenital abnormalities on prenatal MRI Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M., Jr.; Prayer, Daniela 分享 收藏
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity (vol 89, pg 769, 2011) Boyden, Eric D.; Campos-Xavier, A. Belinda; Kalamajski, Sebastian; Cameron, Trevor L.; Suarez, Philippe; Tanackovic, Goranka; Andria, Generoso; Ballhausen, Diana; Briggs, Michael D.; Hartley, Claire; Cohn, Daniel H.; Davidson, H. Rosemarie; Hall, Christine; Ikegawa, Shiro; Jouk, Pierre-Simon; Koenig, Rainer; Megarbane, Andre; 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; Bonafe, Luisa 分享 收藏
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity Boyden, Eric D.; Campos-Xavier, A. Belinda; Kalamajski, Sebastian; Cameron, Trevor L.; Suarez, Philippe; Tanackovich, Goranka; Andria, Generoso; Ballhausen, Diana; Briggs, Michael D.; Hartley, Claire; Cohn, Daniel H.; Davidson, H. Rosemarie; Hal, Christine; Ikegawa, Shiro; Jouk, Pierre-Simon; Koenig, Rainer; Megarbane, Andre; 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; Bonafe, Luisa 分享 收藏
Female external genitalia on fetal magnetic resonance imaging Nemec, S. F.; Nemec, U.; Weber, M.; Rotmensch, S.; Brugger, P. C.; Kasprian, G.; Krestan, C. R.; Rimoin, D. L.; Graham, J. M., Jr.; Prayer, D. 分享 收藏
Mutation (variation) databases and registries: a rationale for coordination of efforts Auerbach, Arleen D.; Burn, John; Cassiman, Jean-Jacques; Claustres, Mireille; Cotton, Richard G. H.; Cutting, Garry; den Dunnen, Johan T.; El-Ruby, Mona; Falcon Vargas, Aida; Greenblatt, Marc S.; Macrae, Finlay; Matsubara, Yoichi; Rimoin, David L.; Vihinen, Mauno; Van Broeckhoven, Christine 分享 收藏
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias Le Goff, Carine; Mahaut, Clementine; Wang, Lauren W.; Allali, Slimane; Abhyankar, Avinash; Jensen, Sacha; Zylberberg, Louise; Collod-Beroud, Gwenaelle; Bonnet, Damien; Alanay, Yasemin; Brady, Angela. F.; Cordier, Marie-Pierre; Devriendt, Koen; Genevieve, David; Kiper, Pelin Ozlem Simsek; Kitoh, Hiroshi; Krakow, Deborah; Lynch, Sally Ann; Le Merrer, Martine; Megarbane, Andre; Mortier, Geert; Odent, Sylvie; Polak, Michel; Rohrbach, Marianne; Sillence, David; Stolte-Dijkstra, Irene; Superti-Furga, Andrea; Rimoin, David L.; Topouchian, Vicken; Unger, Sheila; Zabel, Bernhard; Bole-Feysot, Christine; Nitschke, Patrick; Handford, Penny; Casanova, Jean-Laurent; Boileau, Catherine; Apte, Suneel S.; Munnich, Arnold; Cormier-Dairel, Valerie 分享 收藏
BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing Funari, Vincent A.; Krakow, Deborah; Nevarez, Lisette; Chen, Zugen; Funari, Tara L.; Vatanavicharn, Nithiwat; Wilcox, William R.; Rimoin, David L.; Nelson, Stanley F.; Cohn, Daniel H. 分享 收藏
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Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome Merrill, Amy E.; Merriman, Barry; Farrington-Rock, Claire; Camacho, Natalia; Sebald, Eiman T.; Funari, Vincent A.; Schibler, Matthew J.; Firestein, Marc H.; Cohn, Zachary A.; Priore, Mary Ann; Thompson, Alicia K.; Rimoin, David L.; Nelson, Stanley F.; Cohn, Daniel H.; Krakow, Deborah 分享 收藏
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