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TÃTULO: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. HUMAN MUTATION Full Text
AUTORES: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; Luisa Diogo; Alexander J Fay; Can Ficicioglu; Agata Fiumara; William A Gahl; Rebecca Ganetzky; Himanshu Goel; Lyndsay A Harshman; Miao He; Jaak Jaeken; Philip M James; Daniel Katz; Liesbeth Keldermans; Maria Kibaek; Andrew J Kornberg; Katherine Lachlan; Christina Lam; Joy Yaplito Lee; Deborah A Nickerson; Heidi L Peters; Valerie Race; Luc Regal; Jeffrey S Rush; Lane L Rutledge; Jay Shendure; Erika Souche; Susan E Sparks; Pamela Trapane; Amarilis Sanchez Valle; Eric Vilain; Arve Vollo; Charles J Waechter; Raymond Y Wang; Lynne A Wolfe; Derek A Wong; Tim Wood; Amy C Yang; Univ Washington; Gert Matthijs; Hudson H Freeze; ...Mais
PUBLICAÇÃO: 2016, FONTE: HUMAN MUTATION, VOLUME: 37, NÚMERO: 7

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TÃTULO: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis Full Text
AUTORES: Olivier Gribouval; Vincent Moriniere; Audrey Pawtowski; Christelle Arrondel; Satu Leena Sallinen; Carola Saloranta; Carol Clericuzio; Geraldine Viot; Julia Tantau; Sophie Blesson; Sylvie Cloarec; Marie Christine Machet; David Chitayat; Christelle Thauvin; Nicole Laurent; Julian R Sampson; Jonathan A Bernstein; Alix Clemenson; Fabienne Prieur; Laurent Daniel; Annie Levy Mozziconacci; Katherine Lachlan; Jean Luc Alessandri; Francois Cartault; Jean Pierre Riviere; Nicole Picard; Clarisse Baumann; Anne Lise Delezoide; Maria B Belar Ortega; Nicolas Chassaing; Philippe Labrune; Sui Yu; Helen Firth; Diana Wellesley; Martin Bitzan; Ahmed Alfares; Nancy Braverman; Lotte Krogh; John Tolmie; Harald Gaspar; Berenice Doray; Silvia Majore; Dominique Bonneau; Stephane Triau; Chantal Loirat; Albert David; Deborah Bartholdi; Amir Peleg; Damien Brackman; Rosario Stone; Ralph DeBerardinis; Pierre Corvol; Annie Michaud; Corinne Antignac; Marie Claire Gubler; ...Mais
PUBLICAÇÃO: 2012, FONTE: HUMAN MUTATION, VOLUME: 33, NÚMERO: 2

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TÃTULO: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Full Text
AUTORES: Wilhelmina G Leen; Joerg Klepper; Marcel M Verbeek; Maike Leferink; Tom Hofste; Baziel G van Engelen; Ron A Wevers; Todd Arthur; Nadia Bahi Buisson; Diana Ballhausen; Jolita Bekhof; Patrick van Bogaert; Ines Carrilho; Brigitte Chabrol; Michael P Champion; James Coldwell; Peter Clayton; Elizabeth Donner; Athanasios Evangeliou; Friedrich Ebinger; Kevin Farrell; Rob J Forsyth; Christian G E L de Goede; Stephanie Gross; Stephanie Grunewald; Hans Holthausen; Sandeep Jayawant; Katherine Lachlan; Vincent Laugel; Kathy Leppig; Ming J Lim; Grazia Mancini; Adela Della Marina; Loreto Martorell; Joe McMenamin; Marije E C Meuwissen; Helen Mundy; Nils O Nilsson; Axel Panzer; Bwee T Poll The; Christian Rauscher; Christophe M R Rouselle; Inger Sandvig; Thomas Scheffner; Eamonn Sheridan; Neil Simpson; Parol Sykora; Richard Tomlinson; John Trounce; David Webb; Bernhard Weschke; Hans Scheffer; Michel A Willemsen; ...Mais
PUBLICAÇÃO: 2010, FONTE: BRAIN, VOLUME: 133, NÚMERO: 3

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