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Edwin Guzman

Showing results (11-20 of 17) with videos related to

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Clinical Kidney Journal|August 5, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delayWillem Bosman, Kameryn M Butler, Caitlin A Chang, et al.
The Laryngoscope|July 4, 2012
Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populationsChristen J Lennon, Andrew C Birkeland, José Arturo Pacheco Nuñez, et al.
Patient Education and Counseling|September 16, 2019
Impact of patient education videos on genetic counseling outcomes after exome sequencingRebecca Hernan, Megan T Cho, Ashley L Wilson, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
American Journal of Human Genetics|July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.
Pageof 2

Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
Clinical Kidney Journal|August 5, 2024
Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delayWillem Bosman, Kameryn M Butler, Caitlin A Chang, et al.
The Laryngoscope|July 4, 2012
Association of candidate genes with nonsyndromic clefts in Honduran and Colombian populationsChristen J Lennon, Andrew C Birkeland, José Arturo Pacheco Nuñez, et al.
Patient Education and Counseling|September 16, 2019
Impact of patient education videos on genetic counseling outcomes after exome sequencingRebecca Hernan, Megan T Cho, Ashley L Wilson, et al.
American Journal of Medical Genetics. Part A|February 11, 2022
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotoniaMatthew A Lines, Paula Goldenberg, Ashley Wong, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literatureSulagna Tina Kushary, Anya Revah-Politi, Subit Barua, et al.
American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
American Journal of Human Genetics|July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth diseaseDaniel G Calame, Tianyu Guo, Chen Wang, et al.
Pageof 2