Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Sarah L. Nickerson"'
Autor:
Catherine S. Choong, John Beilby, Joan Uzaraga, Karen J. Woodward, Vicki Chabros, Fabiana Ramos Vasques Walters, Dimitar N. Azmanov, Sarah L. Nickerson, Dagmara A. Kennedy, Tanya Grumball, Joanne Peverall, Gillian M. Arscott, Tracey Edwards, Rebecca E. Brereton, Vanessa Marchin, Soruba Sivamoorthy, Sharron Townshend
Publikováno v:
American Journal of Medical Genetics Part A. 185:3136-3145
Silver-Russell syndrome (SRS) is a rare genetic condition primarily characterized by growth restriction and facial dysmorphisms. While hypomethylation of H19/IGF2:IG-DMR (imprinting control region 1 [IC1]) located at 11p15.5 and maternal uniparental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ede31251fe9231625fce8f9f6cdc7b9
https://doi.org/10.1002/ajmg.a.62391
https://doi.org/10.1002/ajmg.a.62391
Autor:
Jennifer M. Love, Debra O. Prosser, Shanti Balasubramaniam, Philippa A. Dryland, Sarah L. Nickerson, Maina P Kava, Donald R. Love
Nonketotic hyperglycinemia, also known as glycine encephalopathy (OMIM #605899), is an autosomal recessive disorder of glycine metabolism resulting from a defect in the glycine cleavage system. We report two novel mutations of the glycine decarboxyla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::becf6447818d7bc35efe93ed6eecff6a
https://europepmc.org/articles/PMC4999328/
https://europepmc.org/articles/PMC4999328/
Autor:
David Ravine, Dimitar N. Azmanov, Karen Carpenter, Natasha Buzzacott, Ratna Dubey, Jamie-Lee Ricciardi, John Beilby, Deborah Norman, Sarah L. Nickerson
Publikováno v:
Pathology. 50:S100
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f262f64a77ff25b50c3aeaf2781fac81
https://doi.org/10.1016/j.pathol.2017.12.280
https://doi.org/10.1016/j.pathol.2017.12.280
Publikováno v:
Pathology. 49:S31
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fc0daa5951b875c1a9b56c6429b59e3
https://doi.org/10.1016/j.pathol.2016.12.075
https://doi.org/10.1016/j.pathol.2016.12.075
Publikováno v:
Pathology. 48:S96
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dee7f54ca51763d640d6a927bc5718d2
https://doi.org/10.1016/j.pathol.2015.12.272
https://doi.org/10.1016/j.pathol.2015.12.272
Publikováno v:
Pathology. 48:S96
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ccaa5181f0bca1f4164c66e789f77348
https://doi.org/10.1016/j.pathol.2015.12.271
https://doi.org/10.1016/j.pathol.2015.12.271