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Vickie Hannig

Showing results (1-10 of 11) with videos related to

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Pediatric Endocrinology Reviews : PER|January 27, 2006
The role of genetics in pediatric endocrinologyAmy Potter, Vickie Hannig, John A Phillips
Human Mutation|August 20, 2014
A Novel SHOC2 Variant in RasopathyVickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, et al.
Journal of Neurosurgery. Pediatrics|May 20, 2017
Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluationAbbas Rattani, Michael C Dewan, Vickie Hannig, et al.
American Journal of Medical Genetics. Part A|July 5, 2016
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndromeCheryl Cytrynbaum, Karen Chong, Vickie Hannig, et al.
American Journal of Medical Genetics. Part A|March 20, 2020
Limitations of exome sequencing in detecting rare and undiagnosed diseasesKendall J Burdick, Joy D Cogan, Lynette C Rives, et al.
Human Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Pediatric Endocrinology Reviews : PER|January 27, 2006
The role of genetics in pediatric endocrinologyAmy Potter, Vickie Hannig, John A Phillips
Human Mutation|August 20, 2014
A Novel SHOC2 Variant in RasopathyVickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, et al.
Journal of Neurosurgery. Pediatrics|May 20, 2017
Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluationAbbas Rattani, Michael C Dewan, Vickie Hannig, et al.
American Journal of Medical Genetics. Part A|July 5, 2016
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndromeCheryl Cytrynbaum, Karen Chong, Vickie Hannig, et al.
American Journal of Medical Genetics. Part A|March 20, 2020
Limitations of exome sequencing in detecting rare and undiagnosed diseasesKendall J Burdick, Joy D Cogan, Lynette C Rives, et al.
Human Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.
Human Molecular Genetics|May 1, 2012
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148Avinash V Dharmadhikari, Sung-Hae L Kang, Przemyslaw Szafranski, et al.
Nature Genetics|August 16, 2011
A copy number variation morbidity map of developmental delayGregory M Cooper, Bradley P Coe, Santhosh Girirajan, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
American Journal of Human Genetics|May 30, 2024
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureRemzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, et al.
Pageof 2