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Hope Northrup

Showing results (31-40 of 157) with videos related to

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Molecular Genetics & Genomic Medicine|February 5, 2022
Identification of a novel microdeletion causative of Nance-Horan syndromeMariana Lopez Martinolich, Hope Northrup, Pedro Mancias, et al.
Pediatric Neurology|January 21, 2025
Parenting Stress in Tuberous Sclerosis ComplexJenny Do, Syed Hashmi, Hope Northrup, et al.
Nature Genetics|September 1, 2004
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformationInessa Grinberg, Hope Northrup, Holly Ardinger, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 14, 2016
Genetic association of the glycine cleavage system genes and myelomeningoceleRita H Shah, Hope Northrup, James E Hixson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2006
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndromeAudrey C Woerner, Kit-Sing Au, Aimee T Williams, et al.
Pediatric Neurology|July 14, 2020
TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation FamilyHaley Streff, Jennifer E Posey, Caitlin B Mauer, et al.
Pediatric Neurology|August 14, 2025
Influential Factors for Disclosing a Tuberous Sclerosis Complex Diagnosis to Romantic PartnersLaura Gorecki, Syed Hashmi, Jenny Do, et al.
Molecular Genetics and Metabolism|August 4, 2019
Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapyOliver Hausmann, Mohamed Daha, Nicola Longo, et al.
Development (Cambridge, England)|November 20, 2020
<i>Snx3</i> is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signalingHeather Mary Brown, Stephen A Murray, Hope Northrup, et al.
Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.
Pageof 16

Showing results (31-40 of 157) with videos related to

Sort By:
Pageof 16
Molecular Genetics & Genomic Medicine|February 5, 2022
Identification of a novel microdeletion causative of Nance-Horan syndromeMariana Lopez Martinolich, Hope Northrup, Pedro Mancias, et al.
Pediatric Neurology|January 21, 2025
Parenting Stress in Tuberous Sclerosis ComplexJenny Do, Syed Hashmi, Hope Northrup, et al.
Nature Genetics|September 1, 2004
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformationInessa Grinberg, Hope Northrup, Holly Ardinger, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|September 14, 2016
Genetic association of the glycine cleavage system genes and myelomeningoceleRita H Shah, Hope Northrup, James E Hixson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2006
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndromeAudrey C Woerner, Kit-Sing Au, Aimee T Williams, et al.
Pediatric Neurology|July 14, 2020
TSC1 Variant Associated With Mild or Absent Clinical Features of Tuberous Sclerosis Complex in a Three-Generation FamilyHaley Streff, Jennifer E Posey, Caitlin B Mauer, et al.
Pediatric Neurology|August 14, 2025
Influential Factors for Disclosing a Tuberous Sclerosis Complex Diagnosis to Romantic PartnersLaura Gorecki, Syed Hashmi, Jenny Do, et al.
Molecular Genetics and Metabolism|August 4, 2019
Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapyOliver Hausmann, Mohamed Daha, Nicola Longo, et al.
Development (Cambridge, England)|November 20, 2020
<i>Snx3</i> is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signalingHeather Mary Brown, Stephen A Murray, Hope Northrup, et al.
Pediatric Neurology|January 17, 2015
Identification of HIBCH gene mutations causing autosomal recessive Leigh syndrome: a gene involved in valine metabolismClaudia Soler-Alfonso, Gregory M Enns, Mary Kay Koenig, et al.
Pageof 16