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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Journal of Inherited Metabolic Disease
|
February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Karlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.
Brain : a Journal of Neurology
|
February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Molecular Genetics and Metabolism
|
February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease
Oliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.
American Journal of Human Genetics
|
February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Jos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Human Mutation
|
March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
Marlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
American Journal of Human Genetics
|
October 13, 2006
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Martin Hrebícek, Lenka Mrázová, Volkan Seyrantepe, et al.
Cell Metabolism
|
December 14, 2011
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man
Adriaan G Holleboom, Helen Karlsson, Ruei-Shiuan Lin, et al.
Brain : a Journal of Neurology
|
September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
Eva Morava, Ron A Wevers, Vincent Cantagrel, et al.
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of 49
Search research articles
Search
Showing results (451-460 of 483) with videos related to
Sort By:
Page
of 49
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 18, 2021
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
Saskia B Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, et al.
Journal of Inherited Metabolic Disease
|
February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients
Karlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.
Brain : a Journal of Neurology
|
February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
Monique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Molecular Genetics and Metabolism
|
February 20, 2026
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease
Oliver Heath, Francisco Del Caño-Ochoa, Safa Baris, et al.
American Journal of Human Genetics
|
February 3, 2016
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Jos C Jansen, Sharita Timal, Monique van Scherpenzeel, et al.
Journal of Inherited Metabolic Disease
|
May 4, 2022
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, et al.
Human Mutation
|
March 17, 2010
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
Marlies J Valstar, Aida M Bertoli-Avella, Marja W Wessels, et al.
American Journal of Human Genetics
|
October 13, 2006
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Martin Hrebícek, Lenka Mrázová, Volkan Seyrantepe, et al.
Cell Metabolism
|
December 14, 2011
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man
Adriaan G Holleboom, Helen Karlsson, Ruei-Shiuan Lin, et al.
Brain : a Journal of Neurology
|
September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism
Eva Morava, Ron A Wevers, Vincent Cantagrel, et al.
Page
of 49