Michael B. Petersen

Aalborg, Denmark

Last Updated: 09/26/2026

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Found 35 publications

An asymptomatic male individual carrying a 5.72 Mb de novo deletion in 8p23.2‑p23.3: A case report.

An asymptomatic male individual carrying a 5.72 Mb de novo deletion in 8p23.2‑p23.3: A case report.

Journal: Experimental and therapeutic medicine

Published: May 26, 2023

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.

Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: August 25, 2022

First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.

First reported case of Doyne honeycomb retinal dystrophy (Malattia Leventinese/autosomal dominant drusen) in Scandinavia.

Journal: Molecular genetics & genomic medicine

Published: August 25, 2020

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

First reported CABP2-related non-syndromic hearing loss in Northern Europe.

Journal: Molecular genetics & genomic medicine

Published: June 11, 2020

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

Journal: Orphanet journal of rare diseases

Published: April 27, 2020

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

Audiological and Vestibular Findings in Subjects with MELAS Syndrome.

Journal: The journal of international advanced otology

Published: July 27, 2019

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.

Journal: Human mutation

Published: July 23, 2019

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Journal: European journal of medical genetics

Published: March 26, 2019

The spectrum of intermediate SCN8A-related epilepsy.

The spectrum of intermediate SCN8A-related epilepsy.

Journal: Epilepsia

Published: October 29, 2018

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Journal: Molecular genetics & genomic medicine

Published: October 15, 2018

First reported adult patient with TARP syndrome: A case report.

First reported adult patient with TARP syndrome: A case report.

Journal: American journal of medical genetics. Part A

Published: May 25, 2018

Preimplantation genetic diagnosis

Preimplantation genetic diagnosis

Journal: Ugeskrift for laeger

Published: April 07, 2018

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Last Updated: 09/26/2026