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Robin D Clark

Showing results (21-30 of 41) with videos related to

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American Journal of Human Genetics|October 20, 2009
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal developmentZsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.
Bioorganic & Medicinal Chemistry Letters|January 30, 2008
1H-Pyrazolo[3,4-g]hexahydro-isoquinolines as selective glucocorticoid receptor antagonists with high functional activityRobin D Clark, Nicholas C Ray, Karen Williams, et al.
American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.
Developmental Cell|November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause MicrocephalyNichole Link, Hyunglok Chung, Angad Jolly, et al.
American Journal of Human Genetics|October 4, 2003
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsRegina E Ensenauer, Adewale Adeyinka, Heather C Flynn, et al.
Clinical Genetics|July 2, 2021
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrumElizabeth E Palmer, Chloe Whitton, Mais O Hashem, et al.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
HGG Advances|June 14, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|October 20, 2009
Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal developmentZsolt Urban, Vishwanathan Hucthagowder, Nura Schürmann, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.
Bioorganic & Medicinal Chemistry Letters|January 30, 2008
1H-Pyrazolo[3,4-g]hexahydro-isoquinolines as selective glucocorticoid receptor antagonists with high functional activityRobin D Clark, Nicholas C Ray, Karen Williams, et al.
American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.
Developmental Cell|November 19, 2019
Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause MicrocephalyNichole Link, Hyunglok Chung, Angad Jolly, et al.
American Journal of Human Genetics|October 4, 2003
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patientsRegina E Ensenauer, Adewale Adeyinka, Heather C Flynn, et al.
Clinical Genetics|July 2, 2021
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrumElizabeth E Palmer, Chloe Whitton, Mais O Hashem, et al.
American Journal of Human Genetics|June 26, 2012
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityTjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, et al.
HGG Advances|June 14, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
Pageof 5