Items where Author is "Nouri, Z."

(2022) Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscul Disord. ISSN 0960-8966

(2022) Whole exome sequencing identified a novel<i> LAMA2</i> frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior. Neuromuscular Disorders. pp. 776-784. ISSN 0960-8966

(2022) X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the <i>ATRX</i> gene. Molecular Genetics & Genomic Medicine. p. 11. ISSN 2324-9269

(2022) X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene. Mol Genet Genomic Med. e2034. ISSN 2324-9269

(2020) Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene. Advanced Biomedical Research. ISSN 2277-9175

(2020) Targeting Multiple Signaling Pathways in Cancer: The Rutin Therapeutic Approach. Cancers.

(2020) Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss. Molecular Biology Reports. pp. 5355-5364. ISSN 0301-4851

(2020) A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family. Bmc Medical Genetics.