Detalhe da pesquisa
1.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
; 110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724785
2.
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences.
J Med Genet
; 60(6): 547-556, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36150828
3.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Genet Med
; 25(1): 135-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399134
4.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
5.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Mol Genet Metab
; 130(1): 49-57, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165008
6.
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Hum Mutat
; 37(8): 786-93, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27120018
7.
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Hum Genet
; 135(5): 569-586, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071622