Výsledky vyhledávání - Alain Kitzis
- Zobrazuji výsledky 1 - 7 z 7
-
1
-
2
-
3
-
4
-
5
Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD) Autor Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot, Matthieu Peycelon, Mathilde Sibony, Sandra Rojo, Xavier Piguel, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Alain Kitzis, Ken McElreavey, Jean‐Pierre Siffroi, Anu Bashamboo
Vydáno 2015Artigo -
6
<i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants Autor Mireille Claustres, C. Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie‐Pierre Audrézet, I. Duguépéroux, Claude Férec, G. Lalau, A. Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Éric Bieth, Marie‐Claire Malinge, Marie‐Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, C. Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil
Vydáno 2017Artigo -
7
Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature Autor Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans
Vydáno 2013Revisão
Vyhledávací nástroje:
Související témata
Biology
Gene
Genetics
Allele
Chemistry
Computer science
Internal medicine
Medicine
Antibacterial agent
Antibiotics
Art history
Biochemistry
Bioinformatics
Brain-derived neurotrophic factor
COLD-PCR
Cell
Cell biology
Characterization (materials science)
Cognition
Cognitive psychology
Compound heterozygosity
Computational biology
Context (archaeology)
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator
DNA
Disorders of sex development
Endocrinology
Enhancer
Episodic memory