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Publications by F A Hol

A Frameshift Mutation in the Gene for PAX3 in a Girl With Spina Bifida and Mild Signs of Waardenburg Syndrome.

Journal of Medical Genetics

English

PAX Genes and Human Neural Tube Defects: An Amino Acid Substitution in PAX1 in a Patient With Spina Bifida.

Journal of Medical Genetics

English

Related publications

Determination of Methyl Tetrahydrofolate Reductase, TEAD2 and PAX3 Gene Polymorphisms in Patients With Spina Bifida

Cocuk Cerrahisi Dergisi

English

Unrecognized Waardenburg Syndrome and Its Traits in Spina Bifida Patients and Their Families: A Possible Etiologic Factor for Neuraltube Defects• 365

Pediatric Research

English

A Novel Dominant Mutation in the SOX10 Gene in a Chinese Family With Waardenburg Syndrome Type�II

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Familial Case of Nevoid Basal Cell Carcinoma Syndrome With a Frameshift Mutation in the PTCH1 Gene

Japanese Journal of Oral and Maxillofacial Surgery

English

Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome

Journal of Zhejiang University: Science B

Molecular Biology

English

Spina Bifida and Folate-Related Genes: A Study of Gene-Gene Interactions

Genetics in Medicine

English

A Model for Documentation of Spina Bifida

English

The Sex Ratio in Spina Bifida.

Journal of Medical Genetics

English

Dermoid Sinus Type VI Associated With Spina Bifida and Tethered Cord Syndrome in a French Bulldog

Journal of Veterinary Diagnostic Investigation

English