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Human Molecular Genetics, ISSN 0964-6906, 03/2016
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity... 
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2016, Volume 25, Issue 11, p. 2158
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity... 
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2016, Volume 25, Issue 11, p. 2158
We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity... 
Journal Article
NATURE COMMUNICATIONS, ISSN 2041-1723, 04/2019, Volume 10, Issue 1, pp. 1477 - 8
Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the... 
ANIRIDIA | DIAGNOSIS | METABOLISM | GENE | ACIDS | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | PURIFICATION | DISORDERS | EXPRESSION | D-LACTIC ACIDOSIS | Excretion | Dehydrogenases | Lactate dehydrogenase | Zebrafish | Short bowel syndrome | Dehydrogenase | Metabolism | Patients | L-Lactate dehydrogenase | Intestine | Differential diagnosis | Lactic acid | Acidosis | Human behavior | Lactic acidosis
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 01/2019, Volume 28, Issue 1, pp. 96 - 104
Abstract Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into glutamate, and the counteracting enzyme glutamine synthetase... 
TRANSPORT | HUMAN BRAIN | SEQUENCE ALIGNMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | PROGRAM
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 2015, Volume 97, Issue 4, p. 621–626
Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and... 
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 10/2015, Volume 97, Issue 4, p. 621
  Tooth agenesis is one of the most common developmental anomalies in man. Oligodontia, a severe form of tooth agenesis, occurs both as an isolated anomaly and... 
Proteins | Signal transduction | Genetic disorders | Peptides | Teeth | Glycosylation | Mutation
Journal Article
Journal Article