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Peter N Ray

Showing results (51-60 of 62) with videos related to

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American Journal of Human Genetics|November 9, 2010
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromesAdam Shlien, Berivan Baskin, Maria Isabel W Achatz, et al.
BMC Genomics|April 30, 2015
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M SyndromeChristian R Marshall, Sandra A Farrell, Donna Cushing, et al.
Human Genetics|September 30, 2005
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitisMichele D Bishop, Steven D Freedman, Julian Zielenski, et al.
EMBO Molecular Medicine|July 2, 2017
Orkambi® and amplifier co-therapy improves function from a rare <i>CFTR</i> mutation in gene-edited cells and patient tissueSteven V Molinski, Saumel Ahmadi, Wan Ip, et al.
Neurology. Genetics|December 14, 2016
Clinical and genetic study of hereditary spastic paraplegia in CanadaNicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.
Plos Biology|March 28, 2008
Research ethics recommendations for whole-genome research: consensus statementTimothy Caulfield, Amy L McGuire, Mildred Cho, et al.
Nature Medicine|January 27, 2015
Whole-genome sequencing of quartet families with autism spectrum disorderRyan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 11, 2015
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade gliomaMatthew Mistry, Nataliya Zhukova, Daniele Merico, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|November 9, 2010
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromesAdam Shlien, Berivan Baskin, Maria Isabel W Achatz, et al.
BMC Genomics|April 30, 2015
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M SyndromeChristian R Marshall, Sandra A Farrell, Donna Cushing, et al.
Human Genetics|September 30, 2005
The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitisMichele D Bishop, Steven D Freedman, Julian Zielenski, et al.
EMBO Molecular Medicine|July 2, 2017
Orkambi® and amplifier co-therapy improves function from a rare <i>CFTR</i> mutation in gene-edited cells and patient tissueSteven V Molinski, Saumel Ahmadi, Wan Ip, et al.
Neurology. Genetics|December 14, 2016
Clinical and genetic study of hereditary spastic paraplegia in CanadaNicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, et al.
Plos Biology|March 28, 2008
Research ethics recommendations for whole-genome research: consensus statementTimothy Caulfield, Amy L McGuire, Mildred Cho, et al.
Nature Medicine|January 27, 2015
Whole-genome sequencing of quartet families with autism spectrum disorderRyan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|February 11, 2015
BRAF mutation and CDKN2A deletion define a clinically distinct subgroup of childhood secondary high-grade gliomaMatthew Mistry, Nataliya Zhukova, Daniele Merico, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
NPJ Genomic Medicine|June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric MedicineDimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Pageof 7