Detalles de la búsqueda
1.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35916866
2.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29691892
3.
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Mol Genet Metab
; 119(1-2): 83-90, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27370710
4.
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
J Hum Genet
; 55(1): 18-22, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19893582
5.
Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature.
J Med Case Rep
; 4: 361, 2010 Nov 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-21070677
Resultados
1 -
5
de 5
1
Próxima >
>>