Ben J. Hamel

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 22 publications

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.

Novel likely pathogenic variant in NR5A1 gene in a Tanzanian child with 46,XY differences of sex development, inherited from the mosaic father.

Journal: Endocrinology, diabetes & metabolism case reports

Published: October 25, 2022

Carpenter syndrome in a patient from Tanzania.

Carpenter syndrome in a patient from Tanzania.

Journal: American journal of medical genetics. Part A

Published: September 06, 2020

Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and Genomics.

Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and Genomics.

Journal: The American journal of tropical medicine and hygiene

Published: July 15, 2020

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

Journal: The Journal of experimental medicine

Published: July 15, 2019

Ellis-van Creveld syndrome in a patient from Tanzania.

Ellis-van Creveld syndrome in a patient from Tanzania.

Journal: American journal of medical genetics. Part A

Published: March 19, 2019

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania.

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania.

Journal: Case reports in genetics

Published: October 20, 2016

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation.

Journal: The Pan African medical journal

Published: January 01, 2015

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study.

Journal: Indian journal of human genetics

Published: September 11, 2013

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal: Journal of medical genetics

Published: May 07, 2013

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.

Journal: Singapore medical journal

Published: April 03, 2013

Mutations in MED12 cause X-linked Ohdo syndrome.

Mutations in MED12 cause X-linked Ohdo syndrome.

Journal: American journal of human genetics

Published: October 31, 2012

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.

Journal: Case reports in genetics

Published: October 30, 2012

Showing 1-12 of 22

Last Updated: 09/26/2026