Zobrazeno 1 - 7
of 7
pro vyhledávání: '"J. E. Whittington"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We hypothesised that CO
Externí odkaz:
https://doaj.org/article/7ee983666da5499cad8fa99de5a977ef
Publikováno v:
Orphanet journal of rare diseases. 17(1)
Background Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We hypothesised that COVID-19, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef3b82d1803e74af5fcd35b0ce81456
https://pubmed.ncbi.nlm.nih.gov/35189933
https://pubmed.ncbi.nlm.nih.gov/35189933
Publikováno v:
Developmental Medicine & Child Neurology. 44:248-255
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0583b03b424805e84b00ac511dbe8611
https://doi.org/10.1111/j.1469-8749.2002.tb00800.x
https://doi.org/10.1111/j.1469-8749.2002.tb00800.x
Autor:
C J, McAllister, J E, Whittington
Publikováno v:
Clinical obesity. 1(4-6)
Prader-Willi syndrome (PWS) is a multifaceted developmental disorder most commonly associated with extreme hyperphagia and life-threatening obesity. PWS is a genetic disorder of imprinting with almost all cases occurring spontaneously. Behavioural an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::46153867e991969eb45809f42cfb762e
https://pubmed.ncbi.nlm.nih.gov/25585908
https://pubmed.ncbi.nlm.nih.gov/25585908
Autor:
J. E. Whittington
Publikováno v:
Proceedings of the London Mathematical Society. :530-546
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f0999262176f204c6a673f493696067
https://doi.org/10.1112/plms/s3-17.3.530
https://doi.org/10.1112/plms/s3-17.3.530
Publikováno v:
Cytogenetics and cell genetics. 28(3)
Pedigree analyses of five families in which a form of spinocerebellar ataxia (SCA1) is present have been used to obtain additional information on the location of SCA1 on chromosome 6. Recombination rates with HLA and glyoxalase I (GLO) suggest that t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::97a7f945074ca201cab3c79db4f861f9
https://pubmed.ncbi.nlm.nih.gov/7438789
https://pubmed.ncbi.nlm.nih.gov/7438789
Publikováno v:
Advances in neurology. 21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bdedc02ed69d7a1cdca5e1fd7971f971
https://pubmed.ncbi.nlm.nih.gov/735928
https://pubmed.ncbi.nlm.nih.gov/735928