Results 121 to 130 of about 10,371 (225)

UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells. [PDF]

open access: green, 1996
David B. Bregman   +5 more
openalex   +1 more source

Occupational Therapy in Cockayne Syndrome: A Case Report

open access: yesJournal of Modern Rehabilitation, 2017
Introduction: Cockayne syndrome is a rare and autosomal recessive neurodevelopmental disorder characterized by symptoms such as progressive neurological disorder, photosensitivity, visual disturbances, microcephaly, premature aging, and birdlike nose ...
Marzieh Pashmdarfard
doaj  

Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with cockayne syndrome [PDF]

open access: yes, 2006
We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of ...
Al-Kaissi, Ali   +4 more
core   +1 more source

Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study

open access: yesAnnals of Indian Academy of Neurology, 2004
We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and ...
Ashraff V V   +5 more
doaj  

Xeroderma Pigmentosum Group G with Severe Neurological Involvement and Features of Cockayne Syndrome in Infancy [PDF]

open access: bronze, 2001
Dimitrios Zafeiriou   +8 more
openalex   +1 more source

Translocation of Cockayne syndrome group A protein to the nuclear matrix: Possible relevance to transcription-coupled DNA repair [PDF]

open access: bronze, 2002
Shinya Kamiuchi   +5 more
openalex   +1 more source

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