Detalhe da pesquisa
1.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Am J Hum Genet
; 110(8): 1394-1413, 2023 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467750
2.
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
Genet Med
; 24(10): 2187-2193, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35962790
3.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Am J Med Genet A
; 188(8): 2360-2366, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751429
4.
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis.
Am J Hum Genet
; 101(1): 149-156, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686854
5.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Hum Genet
; 137(9): 689-703, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046887
6.
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Mol Genet Metab
; 125(3): 302-304, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30249361
7.
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Hum Genet
; 134(6): 671-3, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893792