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Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. [electronic resource] by
- Zhao, Hongshan
- Tian, Yong
- Breedveld, Guido
- Huang, Shangzhi
- Zou, Ying
- Y, Jue
- Chai, Jinghua
- Li, Hui
- Li, Mingyue
- Oostra, Ben A
- Lo, Wilson H Y
- Heutink, Peter
Producer: 20020812
In:
European journal of human genetics : EJHG vol. 10
Availability: No items available.
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874.
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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. [electronic resource] by
- Dagoneau, Nathalie
- Goulet, Marie
- Geneviève, David
- Sznajer, Yves
- Martinovic, Jelena
- Smithson, Sarah
- Huber, Céline
- Baujat, Geneviève
- Flori, Elisabeth
- Tecco, Laura
- Cavalcanti, Denise
- Delezoide, Anne-Lise
- Serre, Valérie
- Le Merrer, Martine
- Munnich, Arnold
- Cormier-Daire, Valérie
Producer: 20090609
In:
American journal of human genetics vol. 84
Availability: No items available.
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875.
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876.
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877.
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878.
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Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. [electronic resource] by
- Nizon, Mathilde
- Huber, Céline
- De Leonardis, Fabio
- Merrina, Rodolphe
- Forlino, Antonella
- Fradin, Mélanie
- Tuysuz, Beyhan
- Abu-Libdeh, Bassam Y
- Alanay, Yasemin
- Albrecht, Beate
- Al-Gazali, Lihadh
- Basaran, Sarenur Yilmaz
- Clayton-Smith, Jill
- Désir, Julie
- Gill, Harinder
- Greally, Marie T
- Koparir, Erkan
- van Maarle, Merel C
- MacKay, Sara
- Mortier, Geert
- Morton, Jenny
- Sillence, David
- Vilain, Catheline
- Young, Ian
- Zerres, Klaus
- Le Merrer, Martine
- Munnich, Arnold
- Le Goff, Carine
- Rossi, Antonio
- Cormier-Daire, Valérie
Producer: 20121128
In:
Human mutation vol. 33
Availability: No items available.
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879.
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880.
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Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb. [electronic resource] by
- Umair, Muhammad
- Bilal, Muhammad
- Ali, Raja H
- Alhaddad, Bader
- Ahmad, Farooq
- Haack, Tobias B
- Alfadhel, Majid
- Ansar, Muhammad
- Meitinger, Thomas
- Ahmad, Wasim
Producer: 20200812
In:
Clinical genetics vol. 96
Availability: No items available.
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