Array comparative genomic hybridization: Results from an adult population with drug-resistant epilepsy and co-morbidities

por Galizia, Elizabeth C., Srikantha, Maithili, Palmer, Rodger, Waters, Jonathan J., Lench, Nicholas, Ogilvie, Caroline Mackie, Kasperavičiūtė, Dalia, Nashef, Lina, Sisodiya, Sanjay M.
Publicado 2012

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family

por Kojovic, Maja, Sheerin, Una-Marie, Rubio-Agusti, Ignacio, Saha, Anirban, Bras, Jose, Gibbons, Vaneesha, Palmer, Rodger, Houlden, Henry, Hardy, John, Wood, Nicholas W, Bhatia, Kailash P
Publicado 2012

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

por Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Publicado 2016

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

por Kinsler, Veronica A, Thomas, Anna C, Ishida, Miho, Bulstrode, Neil W, Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J, Moore, Gudrun E
Publicado 2013