Hu Tan

Center For Medical Genetics & Hunan Key Laboratory Of Medical Genetics
Changsha, China

Last Updated: 09/26/2026

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Found 18 publications

Clinical practice guidelines for spinal muscular atrophy

Clinical practice guidelines for spinal muscular atrophy

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 05, 2020

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases.

Journal: Medical science monitor : international medical journal of experimental and clinical research
Published: October 12, 2019

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Journal: Molecular genetics & genomic medicine
Published: October 12, 2019

A case of Antley-Bixler syndrome caused by novel POR mutations

A case of Antley-Bixler syndrome caused by novel POR mutations

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: October 11, 2019

Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.

Development and validation of a haplotype-free technique for non-invasive prenatal diagnosis of spinal muscular atrophy.

Journal: Journal of clinical laboratory analysis
Published: July 13, 2019

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Molecular genetic study of 59 Chinese Oculocutaneous albinism families.

Journal: European journal of medical genetics
Published: January 05, 2019

Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.

Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 07, 2018

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report.

Journal: Molecular medicine reports
Published: September 21, 2018

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Journal: American journal of human genetics
Published: May 23, 2018

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.

Journal: Gene
Published: March 04, 2018

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.

Truncating mutations of HIBCH tend to cause severe phenotypes in cases with HIBCH deficiency: a case report and brief literature review.

Journal: Journal of human genetics
Published: February 08, 2018

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

A lesson from a reported pathogenic variant in Peutz-Jeghers syndrome: a case report.

Journal: Familial cancer
Published: February 11, 2017
Showing 1-12 of 18

Last Updated: 09/26/2026