American Journal of Human Genetics 2007 Ferechte Encha-Razavi - Abstracts
| American Journal of Human Genetics 2007 Ferechte Encha-Razavi | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Matthew-Wood syndrome is caused by truncating mutations in the retinol binding protein receptor gene STRA6.(Report) | Biological sciences | Arnold Munnich, Stanislas Lyonnet, Ferechte Encha-Razavi, Michel Vekemans, Tania Attie-Bitach, Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, Heather C. Etchevers, Soumaya Mougou-Zrelli, Sophie Delahaye, Bettina Grattagliano-Bessiere, Maryse Bonniere | |||
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. | Biological sciences | Marie-Claire Gubler, Yves Dumez, Annick Toutain, Arnold Munnich, Stanislas Lyonnet, Emmanuelle Genin, Colin A. Johnson, Lekbir Baala, Sophie Saunier, Sophie Audollent, Catherine Ozilou, Remi Salomon, Ferechte Encha-Razavi, Michel Vekemans, Tania Attie-Bitach, Jelena Martinovic, Marie-Claude Babron, Sivanthiny Sivanandamoorthy, Marie Gonzales, Eleanor Rattenberry, Chantal Esculpavit, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie-Christine Dauge, Joelle Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Francoise Menez, Anne-Marie Beaufrere, Christine Francannet, Julia Tantau, Martine Sinico, Fiona MacDonald | |||
| The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.(Report) | Biological sciences | Marie-Claire Gubler, Arnold Munnich, Stanislas Lyonnet, Colin A. Johnson, Lekbir Baala, Stephane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Remi Salomon, Ferechte Encha-Razavi, Nathalie Boddaert, Pascale De Lonlay, Michel Vekemans, Corinne Antignac, Tania Attie-Bitach | |||
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