Detalhe da pesquisa
1.
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
Brain
; 147(5): 1751-1767, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128568
2.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Brain
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38386308
3.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
4.
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.
Mol Ther
; 32(3): 800-817, 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38243601
5.
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Hum Genet
; 143(3): 311-329, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459354
6.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34022130
7.
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Genet Med
; 26(3): 101034, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054405
8.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
9.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
10.
Expression, purification, and study on the efficiency of a new potent recombinant scFv antibody against the SARS-CoV-2 spike RBD in E. coli BL21.
Protein Expr Purif
; 203: 106210, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473692
11.
The Effect of Platelet-Rich Plasma on the Osteoblastic Differentiation of Human Adipose Tissue-Derived Mesenchymal Stromal Cells.
Clin Lab
; 69(7)2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37436383
12.
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 105(5): 1048-1056, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668703
13.
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Mol Genet Genomics
; 297(5): 1289-1300, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35754085
14.
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.
Exp Dermatol
; 31(6): 943-948, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246884
15.
Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy.
J Med Genet
; 58(7): 495-504, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719099
16.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
J Med Genet
; 58(12): 815-831, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172956
17.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Hum Genet
; 140(6): 915-931, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33496845
18.
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.
Genet Med
; 23(4): 787-792, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288880
19.
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.
Genet Med
; 23(10): 1933-1943, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34172899
20.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025