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1.
The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.
Neurol Sci
; 2024 Feb 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38421525
2.
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
Biochem Genet
; 2024 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38619706
3.
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases.
BMC Med Genomics
; 17(1): 20, 2024 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38216990
4.
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
BMC Med Genomics
; 17(1): 51, 2024 Feb 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38347586
5.
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Heliyon
; 10(6): e27434, 2024 Mar 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38501011
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