Search research articles
Contact Us
Filters
Showing results (411-420 of 483) with videos related to
Page
of 49
Sort By:
Brain : a Journal of Neurology
|
February 1, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, et al.
Molecular Genetics and Metabolism
|
June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Scientific Reports
|
July 28, 2016
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma
Sanne A M van Lith, Anna C Navis, Krissie Lenting, et al.
Brain : a Journal of Neurology
|
January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)
F Mochel, F Sedel, A Vanderver, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 1, 2013
Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma
Jyotsna U Rao, Udo F H Engelke, Richard J T Rodenburg, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Daisy Rymen, Martijn Lindhout, Maria Spanou, et al.
American Journal of Human Genetics
|
February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
Siddharth Banka, Henk J Blom, John Walter, et al.
American Journal of Human Genetics
|
August 19, 2007
Arts syndrome is caused by loss-of-function mutations in PRPS1
Arjan P M de Brouwer, Kelly L Williams, John A Duley, et al.
Journal of Inherited Metabolic Disease
|
May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
Page
of 49
Search research articles
Search
Showing results (411-420 of 483) with videos related to
Sort By:
Page
of 49
Brain : a Journal of Neurology
|
February 1, 2022
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences
Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, et al.
Molecular Genetics and Metabolism
|
June 15, 2024
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales-Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Scientific Reports
|
July 28, 2016
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma
Sanne A M van Lith, Anna C Navis, Krissie Lenting, et al.
Brain : a Journal of Neurology
|
January 21, 2009
Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)
F Mochel, F Sedel, A Vanderver, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research
|
June 1, 2013
Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma
Jyotsna U Rao, Udo F H Engelke, Richard J T Rodenburg, et al.
Journal of Inherited Metabolic Disease
|
February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 22, 2020
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Daisy Rymen, Martijn Lindhout, Maria Spanou, et al.
American Journal of Human Genetics
|
February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
Siddharth Banka, Henk J Blom, John Walter, et al.
American Journal of Human Genetics
|
August 19, 2007
Arts syndrome is caused by loss-of-function mutations in PRPS1
Arjan P M de Brouwer, Kelly L Williams, John A Duley, et al.
Journal of Inherited Metabolic Disease
|
May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa
Miski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
Page
of 49