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1.
A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.
Sci Rep
; 8(1): 2053, 2018 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29391579
2.
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
J Neurol Sci
; 363: 240-4, 2016 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27000257
3.
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Arch Oral Biol
; 67: 28-33, 2016 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-27019138
4.
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Saudi J Biol Sci
; 23(5): 571-6, 2016 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-27579005
5.
Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family.
Eur J Med Genet
; 58(4): 216-21, 2015 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-25721873
6.
Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.
J Neurol Sci
; 353(1-2): 149-54, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25956234
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