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Laura S Farach

Showing results (1-10 of 27) with videos related to

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American Journal of Medical Genetics. Part A|November 18, 2015
KIAA2022 nonsense mutation in a symptomatic femaleLaura S Farach, Hope Northrup
Frontiers in Genetics|November 28, 2022
Case Report: Novel pathogenic variant in <i>NFIX</i> in two sisters with Malan syndrome due to germline mosaicismElizabeth Langley, Laura S Farach, Kate Mowrey
Pediatric Blood & Cancer|July 23, 2013
Therapeutic challenges in treating patients with fragile X syndrome and neoplasiaAndrew Farach, Laura S Farach, Arnold C Paulino
Pediatric Neurology|January 21, 2025
Parenting Stress in Tuberous Sclerosis ComplexJenny Do, Syed Hashmi, Hope Northrup, et al.
American Journal of Medical Genetics. Part A|September 16, 2020
The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variantsStephanie M Baskin, Shaine A Morris, Autumn Vara, et al.
American Journal of Medical Genetics. Part A|February 27, 2019
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotypeVictoria F Wagner, Paul R Hillman, Allison D Britt, 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 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.
Journal of Child Neurology|January 5, 2019
Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic ConditionsSara Wofford, Sarah Noblin, Jessica M Davis, et al.
Pediatric Neurology|December 12, 2018
The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health TreatmentKate E Mowrey, Myla Ashfaq, Deborah A Pearson, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|November 18, 2015
KIAA2022 nonsense mutation in a symptomatic femaleLaura S Farach, Hope Northrup
Frontiers in Genetics|November 28, 2022
Case Report: Novel pathogenic variant in <i>NFIX</i> in two sisters with Malan syndrome due to germline mosaicismElizabeth Langley, Laura S Farach, Kate Mowrey
Pediatric Blood & Cancer|July 23, 2013
Therapeutic challenges in treating patients with fragile X syndrome and neoplasiaAndrew Farach, Laura S Farach, Arnold C Paulino
Pediatric Neurology|January 21, 2025
Parenting Stress in Tuberous Sclerosis ComplexJenny Do, Syed Hashmi, Hope Northrup, et al.
American Journal of Medical Genetics. Part A|September 16, 2020
The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variantsStephanie M Baskin, Shaine A Morris, Autumn Vara, et al.
American Journal of Medical Genetics. Part A|February 27, 2019
A De novo HDAC2 variant in a patient with features consistent with Cornelia de Lange syndrome phenotypeVictoria F Wagner, Paul R Hillman, Allison D Britt, 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 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.
Journal of Child Neurology|January 5, 2019
Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic ConditionsSara Wofford, Sarah Noblin, Jessica M Davis, et al.
Pediatric Neurology|December 12, 2018
The Impact of Psychiatric Symptoms on Tuberous Sclerosis Complex and Utilization of Mental Health TreatmentKate E Mowrey, Myla Ashfaq, Deborah A Pearson, et al.
Pageof 3