Results
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A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. [electronic resource] by
- Xu, Caixia
- Yang, Xiaoming
- Zhou, Hang
- Li, Yongyong
- Xing, Chao
- Zhou, Taifeng
- Zhong, Dongmei
- Lian, Chengjie
- Yan, Mei
- Chen, Tao
- Liao, Zhiheng
- Gao, Bo
- Su, Deying
- Wang, Tingting
- Sharma, Swarkar
- Mohan, Chandra
- Ahituv, Nadav
- Malik, Sajid
- Li, Quan-Zhen
- Su, Peiqiang
Producer: 20200608
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 22
Availability: No items available.
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1483.
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Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. [electronic resource] by
- Estrada-Cuzcano, Alejandro
- Etard, Christelle
- Delvallée, Clarisse
- Stoetzel, Corinne
- Schaefer, Elise
- Scheidecker, Sophie
- Geoffroy, Véronique
- Schneider, Aline
- Studer, Fouzia
- Mattioli, Francesca
- Chennen, Kirsley
- Sigaudy, Sabine
- Plassard, Damien
- Poch, Olivier
- Piton, Amélie
- Strahle, Uwe
- Muller, Jean
- Dollfus, Hélène
Producer: 20210519
In:
Human mutation vol. 41
Availability: No items available.
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Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. [electronic resource] by
- Ashe, Alyson
- Butterfield, Natalie C
- Town, Liam
- Courtney, Andrew D
- Cooper, Ashley N
- Ferguson, Charles
- Barry, Rachael
- Olsson, Fredrik
- Liem, Karel F
- Parton, Robert G
- Wainwright, Brandon J
- Anderson, Kathryn V
- Whitelaw, Emma
- Wicking, Carol
Producer: 20120618
In:
Human molecular genetics vol. 21
Availability: No items available.
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C5orf42 is the major gene responsible for OFD syndrome type VI. [electronic resource] by
- Lopez, Estelle
- Thauvin-Robinet, Christel
- Reversade, Bruno
- Khartoufi, Nadia El
- Devisme, Louise
- Holder, Muriel
- Ansart-Franquet, Hélène
- Avila, Magali
- Lacombe, Didier
- Kleinfinger, Pascale
- Kaori, Irahara
- Takanashi, Jun-Ichi
- Le Merrer, Martine
- Martinovic, Jelena
- Noël, Catherine
- Shboul, Mohammad
- Ho, Lena
- Güven, Yeliz
- Razavi, Ferechté
- Burglen, Lydie
- Gigot, Nadège
- Darmency-Stamboul, Véronique
- Thevenon, Julien
- Aral, Bernard
- Kayserili, Hülya
- Huet, Frédéric
- Lyonnet, Stanislas
- Le Caignec, Cédric
- Franco, Brunella
- Rivière, Jean-Baptiste
- Faivre, Laurence
- Attié-Bitach, Tania
Producer: 20140407
In:
Human genetics vol. 133
Availability: No items available.
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1500.
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