Lubomir Balabanski

46 Gotse Delchev Blvd
1620, Bulgaria

Last Updated: 09/26/2026

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Found 13 publications

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Journal: Clinical genetics

Published: July 24, 2026

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Journal: European journal of human genetics : EJHG

Published: March 22, 2023

A Case of Mody 2 - Associated Hyperglycemia Diagnosed as Gestational Diabetes.

A Case of Mody 2 - Associated Hyperglycemia Diagnosed as Gestational Diabetes.

Journal: Balkan journal of medical genetics : BJMG

Published: March 07, 2023

Restriction of the Global IgM Repertoire in Antiphospholipid Syndrome.

Restriction of the Global IgM Repertoire in Antiphospholipid Syndrome.

Journal: Frontiers in immunology

Published: January 29, 2022

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.

Spinal muscular atrophy with congenital bone fractures 2 caused by a rare loss-of-function ASCC1 gene mutation in two Bulgarian Roma patients.

Journal: Clinical genetics

Published: January 24, 2022

A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1.

A novel AGPAT2 mutation associated with a case of late-diagnosed congenital generalized lipodystrophy type 1.

Journal: Acta diabetologica

Published: June 18, 2020

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Journal: Technology in cancer research & treatment

Published: April 03, 2020

Clinical impact of copy number variation changes in bladder cancer samples.

Clinical impact of copy number variation changes in bladder cancer samples.

Journal: Experimental and therapeutic medicine

Published: November 30, 2019

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

Journal: Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology

Published: June 19, 2018

Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben).

Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben).

Journal: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)

Published: July 22, 2016

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Journal: Case reports in obstetrics and gynecology

Published: March 19, 2016

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

Journal: BioMed research international

Published: February 19, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026