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Hope Northrup

Showing results (41-50 of 157) with videos related to

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Drugs in R&D|September 1, 2012
Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycinMary Kay Koenig, Adelaide A Hebert, Joan Roberson, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descentElizabeth Langley, Laura S Farach, Mary K Koenig, et al.
American Journal of Medical Genetics. Part A|June 1, 2026
Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical FeaturesKirstin A Risgaard, Laura Farach, Hope Northrup, et al.
Clinical Endocrinology|November 6, 2010
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic ricketsMary D Ruppe, Patrick G Brosnan, Kit Sing Au, et al.
Journal of Genetic Counseling|July 28, 2005
An assessment of risk understanding in Hispanic genetic counseling patientsJennifer N Eichmeyer, Hope Northrup, Michael A Assel, et al.
Journal of Genetic Counseling|August 14, 2017
Attitudes of Individuals with Gaucher Disease toward Substrate Reduction TherapiesVictoria F Wagner, Hope Northrup, S Shahrukh Hashmi, et al.
Birth Defects Research|July 8, 2016
Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspringMargaret P Nguyen, Philip J Lupo, Hope Northrup, et al.
American Journal of Medical Genetics. Part A|June 12, 2026
Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain VariantCaroline Crain, Hope Northrup, Laura S Farach, et al.
Molecular Genetics & Genomic Medicine|May 9, 2020
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single familyKate Mowrey, Mary Kay Koenig, Charles A Szabo, et al.
Pediatric Research|March 22, 2006
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNAYao-Hua Zhang, Bing-Ling Huang, Ishwarlal Jialal, et al.
Pageof 16

Showing results (41-50 of 157) with videos related to

Sort By:
Pageof 16
Drugs in R&D|September 1, 2012
Topical rapamycin therapy to alleviate the cutaneous manifestations of tuberous sclerosis complex: a double-blind, randomized, controlled trial to evaluate the safety and efficacy of topically applied rapamycinMary Kay Koenig, Adelaide A Hebert, Joan Roberson, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descentElizabeth Langley, Laura S Farach, Mary K Koenig, et al.
American Journal of Medical Genetics. Part A|June 1, 2026
Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical FeaturesKirstin A Risgaard, Laura Farach, Hope Northrup, et al.
Clinical Endocrinology|November 6, 2010
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic ricketsMary D Ruppe, Patrick G Brosnan, Kit Sing Au, et al.
Journal of Genetic Counseling|July 28, 2005
An assessment of risk understanding in Hispanic genetic counseling patientsJennifer N Eichmeyer, Hope Northrup, Michael A Assel, et al.
Journal of Genetic Counseling|August 14, 2017
Attitudes of Individuals with Gaucher Disease toward Substrate Reduction TherapiesVictoria F Wagner, Hope Northrup, S Shahrukh Hashmi, et al.
Birth Defects Research|July 8, 2016
Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspringMargaret P Nguyen, Philip J Lupo, Hope Northrup, et al.
American Journal of Medical Genetics. Part A|June 12, 2026
Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain VariantCaroline Crain, Hope Northrup, Laura S Farach, et al.
Molecular Genetics & Genomic Medicine|May 9, 2020
Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single familyKate Mowrey, Mary Kay Koenig, Charles A Szabo, et al.
Pediatric Research|March 22, 2006
Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNAYao-Hua Zhang, Bing-Ling Huang, Ishwarlal Jialal, et al.
Pageof 16