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E Stevenson

Showing results (491-500 of 550) with videos related to

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Nature Genetics|May 18, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityCheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.
Leukemia|August 1, 2014
Long-term outcome of a pediatric-inspired regimen used for adults aged 18-50 years with newly diagnosed acute lymphoblastic leukemiaD J DeAngelo, K E Stevenson, S E Dahlberg, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
Clinical Epigenetics|April 29, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeEric G Bend, Erfan Aref-Eshghi, David B Everman, et al.
Blood Advances|June 27, 2018
Refining risk classification in childhood B acute lymphoblastic leukemia: results of DFCI ALL Consortium Protocol 05-001Lynda M Vrooman, Traci M Blonquist, Marian H Harris, et al.
Blood Advances|March 7, 2018
Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemiaThai Hoa Tran, Marian H Harris, Jonathan V Nguyen, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Pageof 55

Showing results (491-500 of 550) with videos related to

Sort By:
Pageof 55
Nature Genetics|May 18, 2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disabilityCheryl Shoubridge, Patrick S Tarpey, Fatima Abidi, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
Human Molecular Genetics|August 13, 2003
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24Xavier J de Mollerat, Fiorella Gurrieri, Chad T Morgan, et al.
Leukemia|August 1, 2014
Long-term outcome of a pediatric-inspired regimen used for adults aged 18-50 years with newly diagnosed acute lymphoblastic leukemiaD J DeAngelo, K E Stevenson, S E Dahlberg, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
Clinical Epigenetics|April 29, 2019
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndromeEric G Bend, Erfan Aref-Eshghi, David B Everman, et al.
Blood Advances|June 27, 2018
Refining risk classification in childhood B acute lymphoblastic leukemia: results of DFCI ALL Consortium Protocol 05-001Lynda M Vrooman, Traci M Blonquist, Marian H Harris, et al.
Blood Advances|March 7, 2018
Prognostic impact of kinase-activating fusions and IKZF1 deletions in pediatric high-risk B-lineage acute lymphoblastic leukemiaThai Hoa Tran, Marian H Harris, Jonathan V Nguyen, et al.
Human Mutation|January 31, 2020
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorderTiana M Scott, Hui Guo, Evan E Eichler, et al.
Pageof 55