Katherine Lachlan
AuthID: R-00G-CS9
1
TITLE: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; Hajianpour, MJ; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
AUTHORS: Christine Shieh; Natasha Jones; Brigitte Vanle; Margaret Au; Alden Y Huang; Ana P G Silva; Hane Lee; Emilie D Douine; Maria G Otero; Andrew Choi; Katheryn Grand; Ingrid P Taff; Mauricio R Delgado; Hajianpour, MJ; Andrea Seeley; Luis Rohena; Hilary Vernon; Karen W Gripp; Samantha A Vergano; Sonal Mahida; ...More
PUBLISHED: 2020, SOURCE: GENETICS IN MEDICINE
INDEXED IN: 
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Scopus WOS2
TITLE: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. HUMAN MUTATION Full Text
AUTHORS: 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; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
AUTHORS: 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; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
3
TITLE: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis Full Text
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
AUTHORS: 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; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2
4
TITLE: Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Full Text
AUTHORS: 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; ...More
PUBLISHED: 2010, SOURCE: BRAIN, VOLUME: 133, ISSUE: 3
AUTHORS: 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; ...More
PUBLISHED: 2010, SOURCE: BRAIN, VOLUME: 133, ISSUE: 3
