Detalhe da pesquisa
1.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
2.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
3.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
4.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113008
5.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363182
6.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med
; 21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
7.
Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis.
J Hum Genet
; 64(7): 689-694, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31068678
8.
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Am J Med Genet A
; 179(6): 993-1000, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30888095
9.
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report.
Neurol Clin Pract
; 14(3): e200228, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38690148
10.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
NPJ Genom Med
; 9(1): 22, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531898
11.
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
; 12(1): e2363, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284452
12.
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Res Sq
; 2023 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37841849