Medical Word Su Doku: Bk. 1

por McKee, Shane
Publicado 2006

The Blood of the Isles

por McKee, Shane
Publicado 2007

Post Mortem - Solving History's Great Medical Mysteries

por McKee, Shane
Publicado 2008

The Role of Mathematics on Human Structure

por McKee, Shane
Publicado 2005

Book Case: Six books

por McKee, Shane
Publicado 2016

Fantastic Data and Where to Find It

por McKee, Shane
Publicado 2017

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

por Keogh, Steven J, McKee, Shane, Smithson, Sarah F, Grier, David, Steward, Colin G
Publicado 2012

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

por Kerr, Katie, McAneney, Helen, Smyth, Laura J., Bailie, Caitlin, McKee, Shane, McKnight, Amy Jayne
Publicado 2020

A comparison of the Netherlands, Norway and UK familial hypercholesterolemia screening programmes with implications for target setting and the UK’s NHS long term plan

por Page, Christopher, Zheng, Huiru, Wang, Haiying, Rai, Taranjit Singh, O’Kane, Maurice, Hart, Pádraig, McKee, Shane, Watterson, Steven
Publicado 2023

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

por Migliore, Chiara, Vendramin, Anna, McKee, Shane, Prontera, Paolo, Faravelli, Francesca, Sachdev, Rani, Dias, Patricia, Mascaro, Martina, Licastro, Danilo, Meroni, Germana
Publicado 2022

Opposite effects on facial morphology due to gene dosage sensitivity

por 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
Publicado 2014

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

por Kerr, Katie, McKenna, Caoimhe, Heggarty, Shirley, Bailie, Caitlin, McMullan, Julie, Crowe, Ashleen, Kilner, Jill, Donnelly, Michael, Boyle, Saralynne, Rea, Gillian, Flanagan, Cheryl, McKee, Shane, McKnight, Amy Jayne
Publicado 2022

Pierpont Syndrome: A Collaborative Study

por 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
Publicado 2011

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

por 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.
Publicado 2015

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

por 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
Publicado 2014

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

por 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.
Publicado 2017

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

por Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R.
Publicado 2019

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Publicado 2019

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

por Buonocore, Federica, Kühnen, Peter, Suntharalingham, Jenifer P., Del Valle, Ignacio, Digweed, Martin, Stachelscheid, Harald, Khajavi, Noushafarin, Didi, Mohammed, Brady, Angela F., Blankenstein, Oliver, Procter, Annie M., Dimitri, Paul, Wales, Jerry K.H., Ghirri, Paolo, Knöbl, Dieter, Strahm, Brigitte, Erlacher, Miriam, Wlodarski, Marcin W., Chen, Wei, Kokai, George K., Anderson, Glenn, Morrogh, Deborah, Moulding, Dale A., McKee, Shane A., Niemeyer, Charlotte M., Grüters, Annette, Achermann, John C.
Publicado 2017

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

por Krab, Lianne C., Marcos-Alcalde, Iñigo, Assaf, Melissa, Balasubramanian, Meena, Andersen, Janne Bayer, Bisgaard, Anne-Marie, Fitzpatrick, David R., Gudmundsson, Sanna, Huisman, Sylvia A., Kalayci, Tugba, Maas, Saskia M., Martinez, Francisco, McKee, Shane, Menke, Leonie A., Mulder, Paul A., Murch, Oliver D., Parker, Michael, Pie, Juan, Ramos, Feliciano J., Rieubland, Claudine, Rosenfeld Mokry, Jill A., Scarano, Emanuela, Shinawi, Marwan, Gómez-Puertas, Paulino, Tümer, Zeynep, Hennekam, Raoul C.
Publicado 2020