Detalhe da pesquisa
1.
A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
J Genet Couns
; 31(1): 252-260, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34265137
2.
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Mol Genet Genomic Med
; 12(3): e2349, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263869
3.
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
J Child Neurol
; 37(6): 517-523, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384780
4.
Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction.
Clin Case Rep
; 10(2): e05277, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35169466
5.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091509
6.
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
NPJ Genom Med
; 6(1): 104, 2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34876591
7.
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
Sci Adv
; 7(20)2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33980485
8.
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Int J Neonatal Screen
; 6(1): 10, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073008