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 em 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 no Mov Disord (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 no J Med Genet (2016)

Genomic Deletions Correlate with Underexpression of Novel Candidate Genes at Six Loci in Pediatric Pilocytic Astrocytoma

Por Potter, Nicola, Karakoula, Aikaterini, Phipps, Kim P, Harkness, William, Hayward, Richard, Thompson, Dominic N P, Jacques, Thomas S, Harding, Brian, Thomas, David G T, Palmer, Rodger W, Rees, Jeremy, Darling, John, Warr, Tracy J
Publicado em 2008

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 em 2013

Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism

Por Woods, Kathryn S., Cundall, Maria, Turton, James, Rizotti, Karine, Mehta, Ameeta, Palmer, Rodger, Wong, Jacqueline, Chong, W. K., Al-Zyoud, Mahmoud, El-Ali, Maryam, Otonkoski, Timo, Martinez-Barbera, Juan-Pedro, Thomas, Paul Q., Robinson, Iain C., Lovell-Badge, Robin, Woodward, Karen J., Dattani, Mehul T.
Publicado em 2005

SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development

Por Kelberman, Daniel, de Castro, Sandra C. P., Huang, Shuwen, Crolla, John A., Palmer, Rodger, Gregory, John W., Taylor, David, Cavallo, Luciano, Faienza, Maria F., Fischetto, Rita, Achermann, John C., Martinez-Barbera, Juan Pedro, Rizzoti, Karine, Lovell-Badge, Robin, Robinson, Iain C. A. F., Gerrelli, Dianne, Dattani, Mehul T.
Publicado em 2008