Results 121 to 130 of about 4,495 (156)

Cockayne syndrome.

The Journal of the Association of Physicians of India, 2001
We report four cases of Cockayne Syndrome in a family of seven children. Apart from the usual clinical and laboratory features, sparse eye lashes and high arched palate in two patients, conjunctival and corneal edema in one, and proximal muscle weakness in one patient were noticed as additional findings.
G Q, Khan, G, Hassan, M, Yaseen, T, Masood, G H, Hajini, D, Akhtar, T, Qureshi   +6 more
openaire   +3 more sources

Cockayne's Syndrome

Clinical Pediatrics, 1987
openaire   +3 more sources

Growth charts in Cockayne syndrome type 1 and type 2

European Journal of Medical Genetics, 2021
Nicolas Le May, , Shehla Mohammed
exaly  

Cockayne's syndrome diagnosis

Neurology, 1984
openaire   +2 more sources

Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome

Pediatric Neurology, 2023
Jennifer Carroll, Richard Wilson, Daniel C Koboldt   +2 more
exaly  

Mitochondrial deficiency in Cockayne syndrome

Mechanisms of Ageing and Development, 2013
Deborah Croteau, Morten Scheibye-Knudsen, Vilhelm Bohr   +2 more
exaly  

Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy

Journal of Experimental Medicine, 2012
Maynard S, Rafael De Cabo, Deborah Croteau   +2 more
exaly  

Cockayne syndrome group A and B proteins converge on transcription-linked resolution of non-B DNA

Proceedings of the National Academy of Sciences of the United States of America, 2016
Myriam Gorospe, Ilya Goldberg, Supriyo De   +2 more
exaly  

A C. elegans homolog of the Cockayne syndrome complementation group A gene

DNA Repair, 2014
Björn Schumacher, Vipin Babu, Kay Hofmann   +2 more
exaly  

Cockayne's syndrome.

Journal of the Canadian Association of Radiologists, 1969
V J, Land, M B, Nogrady
openaire   +3 more sources