Detalhe da pesquisa
1.
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain
; 146(4): 1357-1372, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074901
2.
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Am J Med Genet A
; 185(1): 119-133, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33098347
3.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 695-703, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545681
4.
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Am J Hum Genet
; 95(5): 565-78, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439725
5.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
6.
Eccrine squamous metaplasia and periadnexal granulomas: new cutaneous histopathologic findings in cardiofaciocutaneous syndrome.
Pediatr Dermatol
; 27(3): 274-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19804494
7.
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.
Mol Genet Metab Rep
; 2: 47-50, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649527
8.
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.
World J Clin Cases
; 2(11): 711-6, 2014 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25405196
9.
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
J Pediatr Ophthalmol Strabismus
; 51(6): 355-62, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25139343
10.
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
Am J Med Genet A
; 123A(3): 236-42, 2003 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14608643