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Jaime Vengoechea

Showing results (11-20 of 34) with videos related to

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The Journal of the Arkansas Medical Society|September 23, 2015
Personalized Medicine: Monogenic DiabetesPeter A Goulden, Jaime Vengoechea, Kent McKelvey
American Journal of Medical Genetics. Part A|April 5, 2014
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1BJaime Vengoechea, Lori Carpenter, Yuri A Zárate
American Journal of Medical Genetics. Part A|April 29, 2021
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypesAixa Gonzalez, Sunaina Kapur, Matthew Walsh, et al.
Archives of Endocrinology and Metabolism|March 14, 2019
A rare mutation in hypophosphatasia: a case report of adult form and review of the literatureFrancisco Galeano-Valle, Jaime Vengoechea, Rodolfo J Galindo
Journal of Medical Case Reports|January 1, 2014
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case reportMatthew B Steiner, Jaime Vengoechea, Ronnie Thomas Collins
Parkinsonism & Related Disorders|October 16, 2015
A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonismHarsh V Gupta, Jaime Vengoechea, Kinshuk Sahaya, et al.
European Journal of Human Genetics : EJHG|May 3, 2012
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivityJaime Vengoechea, Aditi S Parikh, Shulin Zhang, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|January 5, 2026
Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case ReportBogdana Petko, Brent D Weinberg, Jaime Vengoechea, et al.
Parkinsonism & Related Disorders|April 6, 2020
Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystoniaSvjetlana Miocinovic, Jaime Vengoechea, Mark S LeDoux, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|August 16, 2013
Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2Jaime Vengoechea, Marjorie P David, Shadi R Yaghi, et al.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
The Journal of the Arkansas Medical Society|September 23, 2015
Personalized Medicine: Monogenic DiabetesPeter A Goulden, Jaime Vengoechea, Kent McKelvey
American Journal of Medical Genetics. Part A|April 5, 2014
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1BJaime Vengoechea, Lori Carpenter, Yuri A Zárate
American Journal of Medical Genetics. Part A|April 29, 2021
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypesAixa Gonzalez, Sunaina Kapur, Matthew Walsh, et al.
Archives of Endocrinology and Metabolism|March 14, 2019
A rare mutation in hypophosphatasia: a case report of adult form and review of the literatureFrancisco Galeano-Valle, Jaime Vengoechea, Rodolfo J Galindo
Journal of Medical Case Reports|January 1, 2014
Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case reportMatthew B Steiner, Jaime Vengoechea, Ronnie Thomas Collins
Parkinsonism & Related Disorders|October 16, 2015
A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonismHarsh V Gupta, Jaime Vengoechea, Kinshuk Sahaya, et al.
European Journal of Human Genetics : EJHG|May 3, 2012
De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivityJaime Vengoechea, Aditi S Parikh, Shulin Zhang, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|January 5, 2026
Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case ReportBogdana Petko, Brent D Weinberg, Jaime Vengoechea, et al.
Parkinsonism & Related Disorders|April 6, 2020
Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystoniaSvjetlana Miocinovic, Jaime Vengoechea, Mark S LeDoux, et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|August 16, 2013
Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2Jaime Vengoechea, Marjorie P David, Shadi R Yaghi, et al.
Pageof 4