Detalhe da pesquisa
1.
A novel 3q interstitial deletion including GATA2 and ZNF148: A case report.
Am J Med Genet A
; : e63621, 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38567931
2.
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case report.
Am J Med Genet A
; 182(11): 2751-2754, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885560
3.
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.
Am J Med Genet A
; 179(7): 1376-1382, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31069960
4.
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Cold Spring Harb Mol Case Stud
; 9(1)2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36963805
5.
Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding.
Cold Spring Harb Mol Case Stud
; 8(6)2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307211
6.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294868
7.
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Mol Genet Genomic Med
; 9(1): e1542, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33350591
8.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
HGG Adv
; 2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-33665635
9.
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis.
Neurol Genet
; 5(6): e366, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872050