Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Wayne K. Lam"'
Autor:
Morad Ansari, Mihail Halachev, David Parry, Jose L. Campos, Elston N. D’Souza, Christopher Barnett, Andrew O. M. Wilkie, Angela Barnicoat, Chirag V. Patel, Elena Sukarova-Angelovska, Katta M. Girisha, Helen V. Firth, Katrina Prescott, Louise C. Wilson, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Shelagh Joss, Simon T. Holden, Wayne K. Lam, Sanjay M. Sisodiya, Andrew J. Green, Gemma Poke, Nicola Whiffin, David R. FitzPatrick, Alison Meynert
AimsThis study assesses the diagnostic utility of whole genome sequence analysis in a well-characterised research cohort of individuals referred with a clinical suspicion of Cornelia de Lange syndrome (CdLS) in whom prior genetic testing had not iden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::658ddd56bd89aab50f38913ae70df264
https://doi.org/10.1101/2022.09.18.22277970
https://doi.org/10.1101/2022.09.18.22277970
Autor:
Anne C. Ferguson-Smith, Valerie Grandjean, Johanna A. Joyce, Paul N. Schofield, Wayne K. Lam, Eamonn R. Maher, Wolf Reik
Publikováno v:
Toxicology Letters. 120:151-160
The role of epigenetic modification of gene expression is becoming increasingly important in how we understand the loss of tumour suppressor gene function in a variety of tumours and tumour predisposing syndromes. This review explores the importance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb423c6aabf5bf6db34b7247a24fe627
https://doi.org/10.1016/s0378-4274(01)00294-6
https://doi.org/10.1016/s0378-4274(01)00294-6
Publikováno v:
The Journal of pediatrics. 136(4)
To investigate whether dietary relaxation or cessation in patients with phenylketonuria (PKU) predisposes to vitamin B12 deficiency.Patients with PKU aged 11 to 38 years underwent a neurologic examination and dietetic assessment and were divided acco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea16ca690d1ebb13e45ffa69af48fc6
https://pubmed.ncbi.nlm.nih.gov/10753257
https://pubmed.ncbi.nlm.nih.gov/10753257
Autor:
Daniel Catchpoole, Eamonn R. Maher, Johanna A. Joyce, Wayne K. Lam, Paul N. Schofield, Paul Jenks, Wolf Reik
Publikováno v:
Human molecular genetics. 6(9)
Genomic imprinting is a novel form of control of gene expression in which the transcription of each allele of an imprinted gene is dependent on the sex of the gamete from which it was derived; to date > 15 genes have been demonstrated to show imprint
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5de4219819c4f6530931644d0c9648e5
https://pubmed.ncbi.nlm.nih.gov/9285792
https://pubmed.ncbi.nlm.nih.gov/9285792