Margus Punab

Tartu, Estonia

Last Updated: 09/26/2026

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Found 108 publications

All-in-one exome sequencing approach for genetic testing of unexplained premature ovarian insufficiency.

All-in-one exome sequencing approach for genetic testing of unexplained premature ovarian insufficiency.

Journal: Human reproduction open

Published: March 10, 2026

Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure.

Response to "Evaluation of severe male infertility". Perspectives of exome sequencing as the first-line genetic test in severe spermatogenic failure.

Journal: F&S reports

Published: January 04, 2026

The long (GGN)n repeat tract in the androgen receptor gene exerts a negative effect on quantitative sperm parameters.

The long (GGN)n repeat tract in the androgen receptor gene exerts a negative effect on quantitative sperm parameters.

Journal: Asian journal of andrology

Published: December 29, 2025

Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.

Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.

Journal: F&S reports

Published: August 04, 2025

Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.

Microdeletion and microduplication syndromes, including recurrent rearrangements at 16p11.2 and 22q11.21, are enriched in unexplained male infertility.

Journal: Human reproduction (Oxford, England)

Published: May 09, 2025

Significantly increased load of hereditary cancer-linked germline variants in infertile men.

Significantly increased load of hereditary cancer-linked germline variants in infertile men.

Journal: Human reproduction open

Published: June 25, 2024

Evidence-based definition of hypoprolactinemia in European men aged 40-86 years: the European male ageing study.

Evidence-based definition of hypoprolactinemia in European men aged 40-86 years: the European male ageing study.

Journal: Reviews in endocrine & metabolic disorders

Published: May 23, 2024

Insulin-like peptide 3 (INSL3) as an indicator of leydig cell insufficiency (LCI) in Middle-aged and older men with hypogonadism: reference range and threshold.

Insulin-like peptide 3 (INSL3) as an indicator of leydig cell insufficiency (LCI) in Middle-aged and older men with hypogonadism: reference range and threshold.

Journal: The aging male : the official journal of the International Society for the Study of the Aging Male

Published: April 27, 2024

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.

Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.

Journal: Human molecular genetics

Published: April 22, 2024

Toward clinical exomes in diagnostics and management of male infertility.

Toward clinical exomes in diagnostics and management of male infertility.

Journal: American journal of human genetics

Published: December 21, 2023

Undiagnosed RASopathies in infertile men.

Undiagnosed RASopathies in infertile men.

Journal: Frontiers in endocrinology

Published: October 10, 2023

Hyponatremia, hypernatremia and impairment of functional, psychological and sexual domains.

Hyponatremia, hypernatremia and impairment of functional, psychological and sexual domains.

Journal: Journal of endocrinological investigation

Published: August 05, 2023

Showing 1-12 of 108

Last Updated: 09/26/2026