Halyna Makukh

Lviv, Ukraine

Last Updated: 09/26/2026

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Found 32 publications

Bridging the Gap: Translated Medical Education to Support Cystic Fibrosis Centers From Non-English Speaking Countries.

Bridging the Gap: Translated Medical Education to Support Cystic Fibrosis Centers From Non-English Speaking Countries.

Journal: Pediatric pulmonology

Published: April 23, 2026

Clinicopathological features of breast cancer in Ukrainian women with BRCA1 c.181T>G (p.Cys61Gly) variant: a case series.

Clinicopathological features of breast cancer in Ukrainian women with BRCA1 c.181T>G (p.Cys61Gly) variant: a case series.

Journal: Frontiers in endocrinology

Published: April 19, 2026

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.

Journal: Frontiers in immunology

Published: September 20, 2025

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report.

Journal: Frontiers in immunology

Published: March 28, 2025

Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme.

Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme.

Journal: The Lancet regional health. Europe

Published: March 21, 2025

Two case reports of B-cell lymphopenia associated with IGLL1 variants identified through newborn screening in Ukraine.

Two case reports of B-cell lymphopenia associated with IGLL1 variants identified through newborn screening in Ukraine.

Journal: Frontiers in pediatrics

Published: January 25, 2025

Exome sequencing in 90 children with developmental delay: a single-center experience.

Exome sequencing in 90 children with developmental delay: a single-center experience.

Journal: Frontiers in genetics

Published: October 02, 2024

Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.

Comment on: Congenital dyserythropoietic anemia type IV with KLF1 E325K mutation: A new case with dysmorphic male genitalia. Report of a second case.

Journal: Pediatric blood & cancer

Published: August 06, 2024

Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

Journal: Frontiers in immunology

Published: May 06, 2024

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women.

Journal: Balkan journal of medical genetics : BJMG

Published: June 02, 2023

FEATURES OF DIAGNOSIS AND ADVERSE COURSE OF NEONATAL JUVENILE XANTHOGRANULOMA: CASE REPORT.

FEATURES OF DIAGNOSIS AND ADVERSE COURSE OF NEONATAL JUVENILE XANTHOGRANULOMA: CASE REPORT.

Journal: Experimental oncology

Published: February 22, 2023

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Journal: Frontiers in immunology

Published: July 21, 2022

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Last Updated: 09/26/2026