Detalhe da pesquisa
1.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet
; 105(3): 631-639, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
2.
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
; 188(10): 3089-3095, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35946377
3.
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
NPJ Genom Med
; 8(1): 4, 2023 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36765070
4.
Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?
Eur J Med Genet
; 65(3): 104427, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063693
5.
The practice of genomic medicine: A delineation of the process and its governing principles.
Front Med (Lausanne)
; 9: 1071348, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714130
6.
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
HGG Adv
; 3(3): 100108, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35599849