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1.
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
J Med Genet
; 57(10): 717-724, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32152250
2.
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Nat Commun
; 12(1): 833, 2021 02 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33547280
3.
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.
J Med Case Rep
; 10: 25, 2016 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-26839063
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