Detalhe da pesquisa
1.
Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.
J Hum Genet
; 67(3): 133-136, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621002
2.
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.
Clin Genet
; 99(4): 594-600, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33463720
3.
Phenotypic diversity and genetic complexity of PAX3-related Waardenburg syndrome.
Am J Med Genet A
; 182(12): 2951-2958, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990402
4.
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Am J Med Genet A
; 182(1): 183-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31670473
5.
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.
Clin Genet
; 95(3): 398-402, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30394532
6.
Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities.
Am J Med Genet A
; 179(5): 870-874, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30941876
7.
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Clin Dysmorphol
; 31(1): 6-10, 2022 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866617
8.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Eur J Hum Genet
; 29(12): 1774-1780, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276053
9.
Novel splice site and nonsense variants in INVS cause infantile nephronophthisis.
Gene
; 729: 144229, 2020 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31706999
10.
Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
Ophthalmic Genet
; 38(6): 533-536, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388256
11.
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.
J Pediatr Genet
; 6(3): 198-204, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794916