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Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. [electronic resource] by
- Alamillo, Christina L
- Powis, Zöe
- Farwell, Kelly
- Shahmirzadi, Layla
- Weltmer, Elaine C
- Turocy, John
- Lowe, Thomas
- Kobelka, Christine
- Chen, Emily
- Basel, Donald
- Ashkinadze, Elena
- D'Augelli, Lisa
- Chao, Elizabeth
- Tang, Sha
Producer: 20160808
In:
Prenatal diagnosis vol. 35
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Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes. [electronic resource] by
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- Yeung, Yvonne
- Perdiguero, Elisa Gomez
- Schulz, Christian
- Yannakoudakis, Basil Z
- Mesbahi, Aida
- Wlodarczyk, Bogdan
- Geissmann, Frederic
- Finnell, Richard H
- Wallingford, John B
- Liu, Karen J
Producer: 20130903
In:
Developmental cell vol. 25
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TCTN3 mutations cause Mohr-Majewski syndrome. [electronic resource] by
- Thomas, Sophie
- Legendre, Marine
- Saunier, Sophie
- Bessières, Bettina
- Alby, Caroline
- Bonnière, Maryse
- Toutain, Annick
- Loeuillet, Laurence
- Szymanska, Katarzyna
- Jossic, Frédérique
- Gaillard, Dominique
- Yacoubi, Mohamed Tahar
- Mougou-Zerelli, Soumaya
- David, Albert
- Barthez, Marie-Anne
- Ville, Yves
- Bole-Feysot, Christine
- Nitschke, Patrick
- Lyonnet, Stanislas
- Munnich, Arnold
- Johnson, Colin A
- Encha-Razavi, Férechté
- Cormier-Daire, Valérie
- Thauvin-Robinet, Christel
- Vekemans, Michel
- Attié-Bitach, Tania
Producer: 20121022
In:
American journal of human genetics vol. 91
Availability: No items available.
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527.
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