Angiotensin-converting enzyme gene polymorphism in Behçet's disease in Iranian population

Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

Case reports in ophthalmological medicine·2026

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.

Molecular biology reports·2026

Novel Variants in PLPBP, SCN1A, and SLC6A1: Genetics, Bioinformatics, and clinical Elucidation of Three Distinct Cases of Developmental and Epileptic Encephalopathy.

Journal of neurogenetics·2026

The promising role of muse cells in regenerative medicine: Mechanisms, applications, and future directions.

Life sciences·2025

Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience·2025

Genetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family.

Epilepsy & behavior reports·2025

Intrafamilial phenotypic variability in CRX-associated retinopathy due to a frameshift variant (c.661del).

Ophthalmic genetics·2026

PCARE-associated inherited retinal diseases: clinical and molecular insights from a Portuguese population.

Ophthalmic genetics·2026

First CDH3-related HJMD case in a black patient: novel variants and diagnostic odyssey.

Ophthalmic genetics·2026

Crossover to acetazolamide for the treatment of cystoid fluid collections in X-linked retinoschisis: the REAXIS study.

Ophthalmic genetics·2026

Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.

Ophthalmic genetics·2026

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.

Ophthalmic genetics·2026

ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome.

Bioinformatics (Oxford, England)·2026

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts.

Developmental dynamics : an official publication of the American Association of Anatomists·2026

Blood Cell Counts and the Duffy Null Phenotype: Beyond Neutropenia.

International journal of laboratory hematology·2026

AKAP11 links autophagy to cognitive impairment in psychiatric diseases.

Autophagy·2026

Solute transport through the glomerular filtration barrier: the podocyte slit diaphragms' role in maintaining glomerular basement membrane integrity and podocyte-to-endothelial crosstalk.

Tissue barriers·2026

DAAM2 gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye.

Turkish journal of medical sciences·2026

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Angiotensin-converting enzyme gene polymorphism in Behçet's disease in Iranian population

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Genetic Insights Into Retinitis Pigmentosa: A De Novo RPGR Mutation in an Iranian-Azeri Family.

A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.

Novel Variants in PLPBP, SCN1A, and SLC6A1: Genetics, Bioinformatics, and clinical Elucidation of Three Distinct Cases of Developmental and Epileptic Encephalopathy.

The promising role of muse cells in regenerative medicine: Mechanisms, applications, and future directions.

Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay.

Genetic insights into progressive myoclonic epilepsies: A case study of KCTD7 mutation in an Iranian-Azeri-Turkish family.

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PCARE-associated inherited retinal diseases: clinical and molecular insights from a Portuguese population.

First CDH3-related HJMD case in a black patient: novel variants and diagnostic odyssey.

Crossover to acetazolamide for the treatment of cystoid fluid collections in X-linked retinoschisis: the REAXIS study.

Unique retinal phenotype may support pathogenicity of FSCN2 in inherited retinal degenerations: a case report and review of the literature.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) with ocular involvement due to a novel CLDN19 variant.

ECHO: a nanopore sequencing-based workflow for (epi)genetic profiling of the human repeatome.

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts.

Blood Cell Counts and the Duffy Null Phenotype: Beyond Neutropenia.

AKAP11 links autophagy to cognitive impairment in psychiatric diseases.

Solute transport through the glomerular filtration barrier: the podocyte slit diaphragms' role in maintaining glomerular basement membrane integrity and podocyte-to-endothelial crosstalk.

DAAM2 gene variants p.(Asp165Glu) and p.(Asn614ThrfsTer2) in pediatric cryptorchidism: a hypothesis-generating pilot case-control study from the Eastern Black Sea region of Türkiye.

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Angiotensin-converting enzyme gene polymorphism in Behçet's disease in Iranian population

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