Hasan Bas

Ankara, Turkey

Last Updated: 09/26/2026

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Found 13 publications

Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation.

Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation.

Journal: Immunologic research

Published: February 18, 2026

A Rare Case of Co-occurring Fanconi Anemia and Primary Ciliary Dyskinesia

A Rare Case of Co-occurring Fanconi Anemia and Primary Ciliary Dyskinesia

Journal: Turkish journal of haematology : official journal of Turkish Society of Haematology

Published: January 27, 2026

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.

Journal: Journal of medical genetics

Published: January 07, 2026

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants.

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants.

Journal: Journal of clinical immunology

Published: July 27, 2025

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

Journal: American journal of human genetics

Published: July 09, 2025

Potential Role of IFIH1 Gene Variant in Autoimmune Hemolytic Anemia: A Case Report.

Potential Role of IFIH1 Gene Variant in Autoimmune Hemolytic Anemia: A Case Report.

Journal: Journal of pediatric hematology/oncology

Published: June 18, 2025

Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data.

Carrier Frequency of Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders in a Middle Eastern Clinical Cohort Based on Retrospective Genetic Testing Data.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: May 23, 2025

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.

Journal: Clinical genetics

Published: April 23, 2025

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders.

Journal: Research and practice in thrombosis and haemostasis

Published: January 28, 2025

GPR15-guided CD8+ T regulatory cells control intestinal inflammation.

GPR15-guided CD8+ T regulatory cells control intestinal inflammation.

Journal: Nature

Published: November 18, 2024

Two remarkable cases of haploinsufficiency found in the DYRK1A gene.

Two remarkable cases of haploinsufficiency found in the DYRK1A gene.

Journal: Acta neurologica Belgica

Published: September 25, 2024

Showing 1-12 of 13

Last Updated: 09/26/2026