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
Inglês
| MEDLINE | ID: mdl-37552066
2.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34102099
3.
TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure.
Nucleic Acids Res
; 50(W1): W744-W752, 2022 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35524567
4.
A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.
Clin Genet
; 95(3): 415-419, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30548255
5.
Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene.
Genes (Basel)
; 13(5)2022 04 21.
Artigo
Inglês
| MEDLINE | ID: mdl-35627110
6.
Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.
Eur J Med Genet
; 63(4): 103821, 2020 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31778857
7.
Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.
Eur J Med Genet
; 61(10): 596-601, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29621621
8.
Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".
Eur J Med Genet
; 63(5): 103900, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32165262