Ngā hua rapu - Sinitdhorn Rujirabanjerd
- E whakaatu ana i te 1 - 4 hua o te 4
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1
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation mā Sinitdhorn Rujirabanjerd, John W. Nelson, Patrick Tarpey, Anna Hackett, Sarah Edkins, F. Lucy Raymond, Charles E. Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz
I whakaputaina 2009Artigo -
2
Erratum: Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation mā Sinitdhorn Rujirabanjerd, John W. Nelson, Patrick Tarpey, Anna Hackett, Sarah Edkins, F. Lucy Raymond, Charles E. Schwartz, Gillian Turner, Shigeki Iwase, Yang Shi, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz
I whakaputaina 2012Errata/Corrigenda -
3
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability mā Cheryl Shoubridge, Patrick Tarpey, Fatima Abidi, Sarah Ramsden, Sinitdhorn Rujirabanjerd, Jessica A. Murphy, Jackie Boyle, Marie Shaw, Alison Gardner, Anné Proos, Helen Puusepp, F. Lucy Raymond, Charles E. Schwartz, Roger E. Stevenson, G Turner, Michael Field, Randall S. Walikonis, Victoria L. Harvey, Anna Hackett, P. Andrew Futreal, Michael R. Stratton, Jozef Gécz
I whakaputaina 2010Artigo -
4
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation mā Patrick Tarpey, Raffaella Smith, Erin Pleasance, Annabel Whibley, Sarah Edkins, Claire Hardy, Sarah O’Meara, Calli Latimer, Ed Dicks, Andrew Menzies, Phil Stephens, Matthew J. Blow, Chris Greenman, Yali Xue, Chris Tyler‐Smith, Deborah J. Thompson, Kristian Gray, J. M. Andrews, Syd Barthorpe, Gemma Buck, Jennifer Cole, Rebecca Dunmore, David Jones, Mark Maddison, Tatiana Mironenko, R. James Turner, Kelly Turrell, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, Jon W. Teague, Adam P. Butler, Andy Jenkinson, Mingming Jia, David S. Richardson, Rebecca Shepherd, Richard Wooster, María‐Isabel Tejada, Francisco Martı́nez, Gemma L. Carvill, René Goliath, Arjan P.M. de Brouwer, Hans van Bokhoven, Hilde Van Esch, Jamel Chelly, Martine Raynaud, Hans‐Hilger Ropers, Fatima Abidi, Anand K. Srivastava, James J. Cox, Ying Luo, Uma Mallya, Jenny Moon, Josef Parnau, Shehla Mohammed, John Tolmie, Cheryl Shoubridge, Mark Corbett, Alison Gardner, Eric Haan, Sinitdhorn Rujirabanjerd, Marie Shaw, Lucianne Vandeleur, Tod Fullston, Douglas F. Easton, Jackie Boyle, M. W. Partington, Anna Hackett, Michael Field, Cindy Skinner, Roger E. Stevenson, Martin Bobrow, Gillian Turner, Charles E. Schwartz, Jozef Gécz, F. Lucy Raymond, P. Andrew Futreal, Michael R. Stratton
I whakaputaina 2009Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Gene
Genetics
Botany
Computational biology
Correlation
Genotype
Genotype-phenotype distinction
Geometry
Identification (biology)
Mathematics
Phenotype
CASK
Chromosome
DNA sequencing
Exome sequencing
Exon
GTPase
Genetic linkage
Genome
Guanine
Guanine nucleotide exchange factor
Intellectual disability
Mutation
Nucleotide
Whole genome sequencing
X chromosome