Can Ding

Mainz, RP, Germany

Last Updated: 09/26/2026

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Found 11 publications

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Journal: Brain : a journal of neurology

Published: January 28, 2024

Editorial: Fetal phenotypes of rare diseases: application and evaluation of prenatal exome sequencing and pathogenesis research of rare diseases.

Editorial: Fetal phenotypes of rare diseases: application and evaluation of prenatal exome sequencing and pathogenesis research of rare diseases.

Journal: Frontiers in genetics

Published: April 14, 2023

The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022.

The European Society of Human Genetics-Young committee- activities and achievements between 2019-2022.

Journal: European journal of human genetics : EJHG

Published: December 10, 2022

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Journal: Clinical genetics

Published: August 18, 2022

The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.

The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community.

Journal: European journal of human genetics : EJHG

Published: November 13, 2021

The Role of the European Society of Human Genetics in Delivering Genomic Education.

The Role of the European Society of Human Genetics in Delivering Genomic Education.

Journal: Frontiers in genetics

Published: April 12, 2021

Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

Correction to: First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

Journal: BMC ophthalmology

Published: January 23, 2021

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

Journal: BMC ophthalmology

Published: August 12, 2020

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.

Journal: American journal of medical genetics. Part A

Published: November 11, 2019

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation.

Journal: Medicina (Kaunas, Lithuania)

Published: February 16, 2019

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Journal: American journal of human genetics

Published: February 10, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026