Detalhe da pesquisa
1.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Am J Hum Genet
; 111(3): 529-543, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38387458
2.
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Am J Med Genet A
; 182(6): 1400-1406, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32190976
3.
One is the loneliest number: genotypic matchmaking using the electronic health record.
Genet Med
; 23(10): 1830-1832, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230636
4.
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Cold Spring Harb Mol Case Stud
; 7(3)2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811063
5.
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Mol Genet Genomic Med
; 7(6): e00676, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31020813
6.
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Clin Imaging
; 58: 108-113, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299614