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Neurogenetics
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February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
Alex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
The New England Journal of Medicine
|
December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosis
Ronald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Neurogenetics
|
January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases
Jill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
Journal of Medicinal Chemistry
|
September 18, 2025
Identification of VVD-214/RO7589831, a Clinical-Stage, Covalent Allosteric Inhibitor of WRN Helicase for the Treatment of MSI-High Cancers
Shota Kikuchi, Jason C Green, Don C Rogness, et al.
Human Mutation
|
July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Human Mutation
|
August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Erin R Riggs, Tristan Nelson, Andrew Merz, et al.
Human Genetics
|
July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
Molecular Syndromology
|
December 6, 2011
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
A Theisen, J A Rosenfeld, K Shane, et al.
Nucleic Acids Research
|
December 19, 2003
GermOnline, a cross-species community knowledgebase on germ cell differentiation
C Wiederkehr, R Basavaraj, C Sarrauste de Menthière, et al.
Nature
|
July 3, 2024
Author Correction: Chemoproteomic discovery of a covalent allosteric inhibitor of WRN helicase
Kristen A Baltgalvis, Kelsey N Lamb, Kent T Symons, et al.
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of 25
Search research articles
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Showing results (231-240 of 244) with videos related to
Sort By:
Page
of 25
Neurogenetics
|
February 8, 2013
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
Alex R Paciorkowski, Ryan N Traylor, Jill A Rosenfeld, et al.
The New England Journal of Medicine
|
December 11, 2012
Chromosomal microarray versus karyotyping for prenatal diagnosis
Ronald J Wapner, Christa Lese Martin, Brynn Levy, et al.
Neurogenetics
|
January 6, 2012
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases
Jill A Rosenfeld, Dina Amrom, Eva Andermann, et al.
Journal of Medicinal Chemistry
|
September 18, 2025
Identification of VVD-214/RO7589831, a Clinical-Stage, Covalent Allosteric Inhibitor of WRN Helicase for the Treatment of MSI-High Cancers
Shota Kikuchi, Jason C Green, Don C Rogness, et al.
Human Mutation
|
July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.
Human Mutation
|
August 11, 2018
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar
Erin R Riggs, Tristan Nelson, Andrew Merz, et al.
Human Genetics
|
July 30, 2011
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, et al.
Molecular Syndromology
|
December 6, 2011
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
A Theisen, J A Rosenfeld, K Shane, et al.
Nucleic Acids Research
|
December 19, 2003
GermOnline, a cross-species community knowledgebase on germ cell differentiation
C Wiederkehr, R Basavaraj, C Sarrauste de Menthière, et al.
Nature
|
July 3, 2024
Author Correction: Chemoproteomic discovery of a covalent allosteric inhibitor of WRN helicase
Kristen A Baltgalvis, Kelsey N Lamb, Kent T Symons, et al.
Page
of 25