Medical Word Su Doku: Bk. 1

nork McKee, Shane
Argitaratua 2006

The Blood of the Isles

nork McKee, Shane
Argitaratua 2007

Post Mortem - Solving History's Great Medical Mysteries

nork McKee, Shane
Argitaratua 2008

The Role of Mathematics on Human Structure

nork McKee, Shane
Argitaratua 2005

Book Case: Six books

nork McKee, Shane
Argitaratua izan da Ulster Med J (2016)

Fantastic Data and Where to Find It

nork McKee, Shane
Argitaratua izan da Ulster Med J (2017)

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

nork Keogh Steven J, McKee Shane, Smithson Sarah F, Grier David, Steward Colin G
Argitaratua 2012-05-01

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

nork Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G
Argitaratua 2012

Constellation of Five Facial Features of Tuberous Sclerosis in a Child with a TSC2 1808A>G Mutation

nork Hardy, Rachel, Shepherd, Charles W., Donnelly, Deirdre E., McKee, Shane A., Morrison, Patrick J.
Argitaratua 2012

A scoping review and proposed workflow for multi-omic rare disease research

nork Kerr, Katie, McAneney, Helen, Smyth, Laura J., Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
Argitaratua izan da Orphanet J Rare Dis (2020)

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

nork Rosser, Lyndon G., McKee, Shane, Millar, David S., Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David N., Lazarou, Lazarus P.
Argitaratua 2008

Opposite effects on facial morphology due to gene dosage sensitivity

nork Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul
Argitaratua 2014

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

nork Boland, Elena , Clayton-Smith, Jill , Woo, Victoria G. , McKee, Shane , Manson, Forbes D. C. , Medne, Livija , Zackai, Elaine , Swanson, Eric A. , Fitzpatrick, David , Millen, Kathleen J. , Sherr, Elliott H. , Dobyns, William B. , Black, Graeme C. M. 
Argitaratua 2007

Pierpont Syndrome: A Collaborative Study

nork Wright, Emma MM Burkitt, Suri, Mohnish, White, Susan M, de Leeuw, Nicole, Silfhout, Anneke T Vulto-van, Stewart, Fiona, McKee, Shane, Mansour, Sahar, Connell, Fiona C, Chopra, Maya, Kirk, Edwin P, Devriendt, Koen, Reardon, Willie, Brunner, Han, Donnai, Dian
Argitaratua izan da Am J Med Genet A (2011)

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

nork Parker, Michael J., Fryer, Alan E., Shears, Deborah J., Lachlan, Katherine L., McKee, Shane A., Magee, Alex C., Mohammed, Shehla, Vasudevan, Pradeep C., Park, Soo‐Mi, Benoit, Valérie, Lederer, Damien, Maystadt, Isabelle, study, DDD, FitzPatrick, David R.
Argitaratua izan da Am J Med Genet A (2015)

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

nork Dunlop, Elaine A, Dodd, Kayleigh M, Land, Stephen C, Davies, Peter A, Martins, Nicole, Stuart, Helen, McKee, Shane, Kingswood, Chris, Saggar, Anand, Corderio, Isabel, Medeira, Ana Maria Duarte, Kingston, Helen, Sampson, Julian R, Davies, David Mark, Tee, Andrew R
Argitaratua 2011

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

nork Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.
Argitaratua izan da Am J Hum Genet (2019)

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

nork Sim, Joe C H, White, Susan M, Fitzpatrick, Elizabeth, Wilson, Gabrielle R, Gillies, Greta, Pope, Kate, Mountford, Hayley S, Torring, Pernille M, McKee, Shane, Vulto-van Silfhout, Anneke T, Jhangiani, Shalini N, Muzny, Donna M, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Lockhart, Paul J
Argitaratua 2014

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

nork Rea, Gillian, Homfray, Tessa, Till, Jan, Roses-Noguer, Ferran, Buchan, Rachel J., Wilkinson, Sam, Wilk, Alicja, Walsh, Roddy, John, Shibu, McKee, Shane, Stewart, Fiona J., Murday, Victoria, Taylor, Robert W., Ashworth, Michael, Baksi, A. John, Daubeney, Piers, Prasad, Sanjay, Barton, Paul J.R., Cook, Stuart A., Ware, James S.
Argitaratua izan da Cold Spring Harb Mol Case Stud (2017)

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

nork Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth
Argitaratua izan da Am J Hum Genet (2018)