Hans K. Amstel-Van

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 20 publications

Is there more to hypodontia then missing teeth?

Is there more to hypodontia then missing teeth?

Journal: Nederlands tijdschrift voor tandheelkunde

Published: June 06, 2023

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 28, 2021

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.

Journal: American journal of hematology

Published: October 17, 2019

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Journal: Circulation. Genomic and precision medicine

Published: May 22, 2019

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Journal: Annals of neurology

Published: March 06, 2018

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.

Journal: Pediatric blood & cancer

Published: February 21, 2018

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Journal: Journal of medical genetics

Published: February 06, 2018

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

Journal: European journal of medical genetics

Published: January 17, 2018

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

Journal: American journal of human genetics

Published: June 16, 2017

The association between WNT10A variants and dental development in patients with isolated oligodontia.

The association between WNT10A variants and dental development in patients with isolated oligodontia.

Journal: European journal of human genetics : EJHG

Published: January 21, 2016

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

Journal: American journal of medical genetics. Part A

Published: October 23, 2015

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Journal: American journal of hematology

Published: July 31, 2015

Showing 1-12 of 20

Last Updated: 09/26/2026