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1.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Am J Hum Genet
; 110(1): 146-160, 2023 01 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36608681
2.
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.
Mol Genet Metab
; 142(2): 108487, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38733638
3.
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Harefuah
; 162(6): 344-351, 2023 Jun.
Artículo
en Hebreo
| MEDLINE | ID: mdl-37394435
4.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-33944996
5.
NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Brain Commun
; 3(4): fcab256, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34805998
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