Estelle Chanudet
AuthID: R-00F-BPS
1
TITLE: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome Full Text
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
AUTHORS: Sergio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlova; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; ...More
PUBLISHED: 2014, SOURCE: NATURE GENETICS, VOLUME: 46, ISSUE: 1
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TITLE: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
AUTHORS: Anna C Thomas; Hywel Williams; Nuria Seto Salvia; Chiara Bacchelli; Dagan Jenkins; Mary O'Sullivan; Konstantinos Mengrelis; Miho Ishida; Louise Ocaka; Estelle Chanudet; Chela James; Francesco Lescai; Glenn Anderson; Deborah Morrogh; Mina Ryten; Andrew J Duncan; Yun Jin Pai; Jorge M Saraiva; Fabiana Ramos; Bernadette Farren; ...More
PUBLISHED: 2014, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 95, ISSUE: 5
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TITLE: Intellectual Disability, Unusual Facial Morphology and Hand Anomalies in Sibs Full Text
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
AUTHORS: Sergio B Sousa; Margarida Venancio; Estelle Chanudet; Rodger Palmer; Lina Ramos; Philip L Beales; Gudrun E Moore; Jorge M Saraiva; Raoul C Hennekam;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161, ISSUE: 10
