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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomics
Peter Witters, Ann Saada, Tomas Honzik, et al.
Genes
|
November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDG
Laurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism
|
December 13, 2017
Renal involvement in PMM2-CDG, a mini-review
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Journal of Inherited Metabolic Disease
|
October 6, 2017
Isolated sulfite oxidase deficiency
Helena Claerhout, Peter Witters, Luc Régal, et al.
Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry
|
January 19, 2019
Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates
Eveline Lefever, Peter Witters, Evelien Gielen, et al.
Molecular Genetics and Metabolism
|
January 22, 2026
Multi-omics analysis reveals ER stress as a main feature in two endothelial cell models of N-linked congenital disorders of glycosylation
Karen Driesen, Veronika Holubová, Pedro Magalhães, et al.
European Journal of Gastroenterology & Hepatology
|
January 1, 2010
Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine
Klaartje F Lowette, Koen Desmet, Peter Witters, et al.
The Journal of Dermatology
|
June 26, 2024
Quality of life in children with erythropoietic protoporphyria: a case-control study
Louisa G Kluijver, Debby Wensink, Margreet A E M Wagenmakers, et al.
Orphanet Journal of Rare Diseases
|
March 21, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Peter Witters, Hans Andersson, Jaak Jaeken, et al.
Frontiers in Pediatrics
|
June 20, 2018
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice
Kathrin Burgmaier, Joy Brandt, Rukshana Shroff, et al.
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of 8
Search research articles
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Showing results (21-30 of 73) with videos related to
Sort By:
Page
of 8
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomics
Peter Witters, Ann Saada, Tomas Honzik, et al.
Genes
|
November 27, 2021
Genotype-Phenotype Correlations in PMM2-CDG
Laurien Vaes, Daisy Rymen, David Cassiman, et al.
Molecular Genetics and Metabolism
|
December 13, 2017
Renal involvement in PMM2-CDG, a mini-review
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Journal of Inherited Metabolic Disease
|
October 6, 2017
Isolated sulfite oxidase deficiency
Helena Claerhout, Peter Witters, Luc Régal, et al.
Journal of Clinical Densitometry : the Official Journal of the International Society for Clinical Densitometry
|
January 19, 2019
Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates
Eveline Lefever, Peter Witters, Evelien Gielen, et al.
Molecular Genetics and Metabolism
|
January 22, 2026
Multi-omics analysis reveals ER stress as a main feature in two endothelial cell models of N-linked congenital disorders of glycosylation
Karen Driesen, Veronika Holubová, Pedro Magalhães, et al.
European Journal of Gastroenterology & Hepatology
|
January 1, 2010
Wilson's disease: long-term follow-up of a cohort of 24 patients treated with D-penicillamine
Klaartje F Lowette, Koen Desmet, Peter Witters, et al.
The Journal of Dermatology
|
June 26, 2024
Quality of life in children with erythropoietic protoporphyria: a case-control study
Louisa G Kluijver, Debby Wensink, Margreet A E M Wagenmakers, et al.
Orphanet Journal of Rare Diseases
|
March 21, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Peter Witters, Hans Andersson, Jaak Jaeken, et al.
Frontiers in Pediatrics
|
June 20, 2018
Gastrostomy Tube Insertion in Pediatric Patients With Autosomal Recessive Polycystic Kidney Disease (ARPKD): Current Practice
Kathrin Burgmaier, Joy Brandt, Rukshana Shroff, et al.
Page
of 8