Detalhe da pesquisa
1.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Am J Hum Genet
; 110(6): 963-978, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37196654
2.
Autism Spectrum Disorder and Mild Developmental Delay in a Patient with a Rare Inborn Error of Metabolism.
Clin Chem
; 70(6): 882-884, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38825343
3.
Nonprogressive Mobile Dystonia in MTFMT-Related Mitochondrial Disease.
Mov Disord Clin Pract
; 10(1): 145-147, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36704074
4.
Reply to Letter: "MTFMT-Related Leigh Syndrome Phenotypically Manifesting with Mobile Dystonia and Hypoacusis".
Mov Disord Clin Pract
; 10(7): 1164-1165, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37476311