ProfileOfResearchers

TITLE: SLC35A2-CDG: Novel variant and review
AUTHORS: Quelhas, D ; Correia, J; Jaeken, J; Azevedo, L; Lopes Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, E ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 26

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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; 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; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7

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TITLE: SRD5A3-CDG: AN IMPORTANT GROUP OF DOLICHOL-PHOSPHATE SYNTHESIS DEFECTS Full Text
AUTHORS: Rymen, D; Rymen, D; Keldermans, L; Quelhas, D; Snyder, FF; Alehan, F; Erol, I; Mubeccel, D; Gokcay, G; Mitchell, G; Matthijs, G; Jaeken, J;
PUBLISHED: 2012, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 35

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WOS

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