Detalhe da pesquisa
1.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
2.
Further evidence of involvement of ITSN1 in autosomal dominant neurodevelopmental disorder.
Clin Genet
; 105(4): 455-456, 2024 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38346866
3.
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome.
Am J Med Genet A
; 194(5): e63499, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38135440
4.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet
; 107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232675
5.
EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.
Am J Med Genet A
; 182(11): 2501-2507, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32869452
6.
Phenotype delineation of ZNF462 related syndrome.
Am J Med Genet A
; 179(10): 2075-2082, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361404
7.
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Congenit Anom (Kyoto)
; 64(3): 155-160, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520260
8.
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091507
9.
Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36442996
10.
Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.
J Community Genet
; 12(4): 663-670, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34558037