Detalhe da pesquisa
1.
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.
Hum Mol Genet
; 28(20): 3391-3405, 2019 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363758
2.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29861108
3.
A clinical scoring system for congenital contractural arachnodactyly.
Genet Med
; 22(1): 124-131, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316167
4.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Am J Med Genet A
; 167A(2): 296-312, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604658
5.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Nat Commun
; 14(1): 853, 2023 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36792598
6.
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 48(10): 1185-92, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27571260
7.
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.
J Clin Endocrinol Metab
; 98(3): E528-36, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23365120
8.
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
J Clin Endocrinol Metab
; 97(2): E257-67, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22162478
9.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Nat Genet
; 49(2): 317, 2017 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-28138155
10.
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Am J Hum Genet
; 81(4): 713-25, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17846997
11.
Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
J Mol Cell Cardiol
; 35(10): 1251-5, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14519435