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1.
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
2.
Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.
Neurol Sci
; 44(11): 4041-4048, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37369877
3.
Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.
Neurol Sci
; 43(4): 2859-2863, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35099645
4.
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
5.
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
6.
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
7.
Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.
Mol Genet Genomic Med
; 10(9): e2004, 2022 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35758145
8.
Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case Series.
Iran J Child Neurol
; 16(2): 117-128, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35497098
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