Results 181 to 190 of about 7,052 (205)

Recent progress in Lynch syndrome and other familial colorectal cancer syndromes

Ca-A Cancer Journal for Clinicians, 2018
Patrick M Boland, Clement Richard Boland, Matthew B Yurgelun   +2 more
exaly  

Review and update of mutations causing Waardenburg syndrome

Human Mutation, 2010
Veronique Pingault, Sandrine Marlin, Nadege Bondurand   +2 more
exaly  

Waardenburg's memorial lecture: Waardenburg's syndrome

International Ophthalmology, 1982
openaire   +2 more sources

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

Nature Genetics, 1996
Patrick Edery, Jeanne Amiel, Charis Eng
exaly  

A clinical and genetic study of 16 Japanese families with Waardenburg syndrome

Gene, 2019
Kimitaka Kaga, Tatsuo Matsunaga
exaly  

Hearing loss in Waardenburg syndrome: a systematic review

Clinical Genetics, 2016
Yong Feng
exaly  

Waardenburg’s Syndrome

Indian Journal of Otolaryngology, 1981
Mohd Maqbool, Abdul Ahad, Abdul Rashid Patigaroo, Zahoor Ahmad   +3 more
openaire   +1 more source

Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain

American Journal of Human Genetics, 2000
Tania Attie-Bitach, Veronique Pingault, Walter Doerfler   +2 more
exaly  

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Nature Genetics, 1996
Conny Van Ravenswaaij-Arts, Danielle Majoor-Krakauer, Aravinda Chakravarti   +2 more
exaly  

The association of Waardenburg syndrome and Hirschsprung megacolon

American Journal of Medical Genetics Part A, 1979
Gil Omenn
exaly