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1.
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
J Med Genet
; 54(4): 236-240, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28143899
2.
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Am J Hum Genet
; 93(4): 721-6, 2013 Oct 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24075186
3.
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Am J Med Genet A
; 164A(6): 1565-70, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24668509
4.
Novel metabolic biomarkers related to sulfur-dependent detoxification pathways in autistic patients of Saudi Arabia.
BMC Neurol
; 11: 139, 2011 Nov 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-22051046
5.
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.
Mol Cytogenet
; 12: 21, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31131027
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