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S J L Knight

Showing results (1-10 of 10) with videos related to

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Cytogenetic and Genome Research|November 25, 2006
Idiopathic learning disability and genome imbalanceS J L Knight, R Regan
Clinical Genetics|March 9, 2016
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopiaL Lange, A T Pagnamenta, S Lise, et al.
Leukemia|January 20, 2012
Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemiaS J L Knight, C Yau, R Clifford, et al.
Leukemia|November 22, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Leukemia|June 7, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Journal of Medical Genetics|June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantF D Hannes, A J Sharp, H C Mefford, et al.
Leukemia|July 19, 2019
Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Cytogenetic and Genome Research|November 25, 2006
Idiopathic learning disability and genome imbalanceS J L Knight, R Regan
Clinical Genetics|March 9, 2016
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopiaL Lange, A T Pagnamenta, S Lise, et al.
Leukemia|January 20, 2012
Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemiaS J L Knight, C Yau, R Clifford, et al.
Leukemia|November 22, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Leukemia|June 7, 2017
Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Journal of Medical Genetics|June 14, 2008
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantF D Hannes, A J Sharp, H C Mefford, et al.
Leukemia|July 19, 2019
Correction: Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroupsA Burns, R Alsolami, J Becq, et al.
Molecular Syndromology|December 6, 2011
Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 MicroduplicationsJ Wincent, D L Bruno, B W M van Bon, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
Journal of Medical Genetics|April 18, 2009
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeB W M van Bon, H C Mefford, B Menten, et al.
Pageof 1