Hudson H. Freeze
AuthID: R-00G-Y2M
1
TITLE: Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Full Text
AUTHORS: del Cano Ochoa, Francisco; Ng, Bobby G.; Rubio del Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marcal; Rymen, Daisy; Sanchez Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramon Maiques, Santiago;
PUBLISHED: 2023, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
AUTHORS: del Cano Ochoa, Francisco; Ng, Bobby G.; Rubio del Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marcal; Rymen, Daisy; Sanchez Pintos, Paula; Kenny, Joanna; Ley Martos, Myriam; Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramon Maiques, Santiago;
PUBLISHED: 2023, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients Full Text
AUTHORS: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 3
AUTHORS: Mari Anne Vals; Angel Ashikov; Pilvi Ilves; Dagmar Loorits; Qiang Zeng; Rita Barone; Karin Huijben; Jolanta Sykut Cegielska; Luisa Diogo; Abdallah F Elias; Robert S Greenwood; Stephanie Grunewald; Peter M van Hasselt; Jiddeke M van de Kamp; Grazia Mancini; Agnieszka Okninska; Sander Pajusalu; Pauline M Rudd; Cecilie F Rustad; Ramona Salvarinova; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS3
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
