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Hung-Chun Yu

Showing results (1-10 of 24) with videos related to

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American Journal of Medical Genetics. Part A|November 28, 2014
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomasJonathan Saari, Mark A Lovell, Hung-Chun Yu, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6BHung-Chun Yu, Elizabeth A Geiger, Livija Medne, et al.
Biology Open|March 25, 2020
Abnormal expression of GABA<sub>A</sub> receptor subunits and hypomotility upon loss of <i>gabra1</i> in zebrafishNayeli G Reyes-Nava, Hung-Chun Yu, Curtis R Coughlin, et al.
World Journal of Gastrointestinal Surgery|May 1, 2024
Stercoral perforation of the cecum: A case reportHung-Chun Yu, Ta-Wei Pu, Jung-Cheng Kang, et al.
American Journal of Human Genetics|January 5, 2019
Response to Whiffin et alNaisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, et al.
American Journal of Human Genetics|April 7, 2018
Identification of Misclassified ClinVar Variants via Disease Population PrevalenceNaisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|November 7, 2014
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?Pedro Gonzalez-Alegre, Jorge Di Paola, Kai Wang, et al.
Developmental Medicine and Child Neurology|July 13, 2022
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasmsScott Demarest, Jeff Calhoun, Krista Eschbach, et al.
HGG Advances|January 20, 2022
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu AfricansMegan Null, Feyza Yilmaz, David Astling, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathyHung-Chun Yu, Curtis R Coughlin, Elizabeth A Geiger, et al.
Pageof 3

Showing results (1-10 of 24) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|November 28, 2014
Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomasJonathan Saari, Mark A Lovell, Hung-Chun Yu, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6BHung-Chun Yu, Elizabeth A Geiger, Livija Medne, et al.
Biology Open|March 25, 2020
Abnormal expression of GABA<sub>A</sub> receptor subunits and hypomotility upon loss of <i>gabra1</i> in zebrafishNayeli G Reyes-Nava, Hung-Chun Yu, Curtis R Coughlin, et al.
World Journal of Gastrointestinal Surgery|May 1, 2024
Stercoral perforation of the cecum: A case reportHung-Chun Yu, Ta-Wei Pu, Jung-Cheng Kang, et al.
American Journal of Human Genetics|January 5, 2019
Response to Whiffin et alNaisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, et al.
American Journal of Human Genetics|April 7, 2018
Identification of Misclassified ClinVar Variants via Disease Population PrevalenceNaisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, et al.
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|November 7, 2014
Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?Pedro Gonzalez-Alegre, Jorge Di Paola, Kai Wang, et al.
Developmental Medicine and Child Neurology|July 13, 2022
Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasmsScott Demarest, Jeff Calhoun, Krista Eschbach, et al.
HGG Advances|January 20, 2022
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu AfricansMegan Null, Feyza Yilmaz, David Astling, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathyHung-Chun Yu, Curtis R Coughlin, Elizabeth A Geiger, et al.
Pageof 3