4.5 Article

Mutation analysis ofTCOF1gene in Chinese Treacher Collins syndrome patients

Related references

Note: Only part of the references are listed.
Article Otorhinolaryngology

Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome

Xiaohong Li et al.

ACTA OTO-LARYNGOLOGICA (2019)

Article Pharmacology & Pharmacy

Proteasomal inhibition attenuates craniofacial malformations in a zebrafish model of Treacher Collins Syndrome

Mauco Gil Rosas et al.

BIOCHEMICAL PHARMACOLOGY (2019)

Article Surgery

Treacher Collins Syndrome

Albaraa Aljerian et al.

CLINICS IN PLASTIC SURGERY (2019)

Article Medicine, Research & Experimental

A novel LOXHD1 variant in a Chinese couple with hearing loss

Chuan Zhang et al.

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH (2019)

Article Genetics & Heredity

InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

Quan Li et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent et al.

GENETICS IN MEDICINE (2016)

Article Surgery

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations

Raul G. Plomp et al.

PLASTIC AND RECONSTRUCTIVE SURGERY (2016)

Review Dentistry, Oral Surgery & Medicine

The surgical management of Treacher Collins syndrome

Alistair R. M. Cobb et al.

BRITISH JOURNAL OF ORAL & MAXILLOFACIAL SURGERY (2014)

Article Biochemistry & Molecular Biology

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome

Michael Bowman et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse et al.

NATURE GENETICS (2011)

Article Biochemistry & Molecular Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Francois-Olivier Desmet et al.

NUCLEIC ACIDS RESEARCH (2009)

Article Biochemistry & Molecular Biology

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

ÖA Teber et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2004)