Detalhe da pesquisa
1.
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Eur J Pediatr
; 181(1): 171-187, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232366
2.
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
J Peripher Nerv Syst
; 20(4): 415-8, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307494
3.
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants.
Diagnostics (Basel)
; 11(7)2021 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359301
4.
Mild form of Zellweger Spectrum Disorders (ZSD) due to variants in PEX1: Detailed clinical investigation in a 9-years-old female.
Mol Genet Metab Rep
; 24: 100615, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32596134
5.
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4.
Mol Genet Genomic Med
; 7(6): e682, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30973214