Detalhe da pesquisa
1.
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Clin Genet
; 104(5): 607-609, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37491870
2.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Brain
; 145(12): 4232-4245, 2022 12 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35139179
3.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(2): 255-261, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906464
4.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906456
5.
A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C.
Am J Med Genet A
; 176(12): 2791-2797, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30216695
6.
Keratoconus in a patient with B3GALT6-related disorder.
Clin Genet
; 99(6): 849-850, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33631843
7.
Experiences of Family Communication and Cascade Genetic Testing for Hereditary Cancer in Medically Underserved Populations-A Qualitative Study.
Cancer Prev Res (Phila)
; 17(1): 19-28, 2024 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37913800
8.
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency.
JIMD Rep
; 64(2): 138-145, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36873089
9.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
HGG Adv
; 3(3): 100111, 2022 Jul 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35571680
10.
Genetic testing hearing loss: The challenge of non syndromic mimics.
Int J Pediatr Otorhinolaryngol
; 150: 110872, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34433113
11.
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
J Exp Med
; 218(7)2021 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33951726