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Christine M Eng

Showing results (21-30 of 100) with videos related to

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Kidney International|August 13, 2003
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotypeShoichiro Nakao, Chihaya Kodama, Toshihiro Takenaka, et al.
Frontiers in Genetics|March 20, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosisElizabeth Gorman, Hongzheng Dai, Yanming Feng, et al.
Molecular Genetics & Genomic Medicine|September 29, 2021
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patientsLei Wang, Pengfei Liu, Weimin Bi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2004
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutationInge M Buyse, Sarah E McCarthy, Paul Lurix, et al.
European Journal of Medical Genetics|January 28, 2017
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twinsJozef Hertecant, Makanko Komara, Aslam Nagi, et al.
Human Mutation|August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridizationDaniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Cold Spring Harbor Molecular Case Studies|March 10, 2019
De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizuresNurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approachMaggie Westemeyer, Jennifer Saucier, Jody Wallace, et al.
Genome Medicine|February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnosticsRegis A James, Ian M Campbell, Edward S Chen, et al.
American Journal of Medical Genetics. Part A|February 10, 2018
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, et al.
Pageof 10

Showing results (21-30 of 100) with videos related to

Sort By:
Pageof 10
Kidney International|August 13, 2003
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotypeShoichiro Nakao, Chihaya Kodama, Toshihiro Takenaka, et al.
Frontiers in Genetics|March 20, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosisElizabeth Gorman, Hongzheng Dai, Yanming Feng, et al.
Molecular Genetics & Genomic Medicine|September 29, 2021
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patientsLei Wang, Pengfei Liu, Weimin Bi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2004
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutationInge M Buyse, Sarah E McCarthy, Paul Lurix, et al.
European Journal of Medical Genetics|January 28, 2017
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twinsJozef Hertecant, Makanko Komara, Aslam Nagi, et al.
Human Mutation|August 30, 2008
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridizationDaniela del Gaudio, Yaping Yang, Barbara A Boggs, et al.
Cold Spring Harbor Molecular Case Studies|March 10, 2019
De novo missense variant in the GTPase effector domain (GED) of <i>DNM1L</i> leads to static encephalopathy and seizuresNurit Assia Batzir, Pranjali K Bhagwat, Tanya N Eble, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approachMaggie Westemeyer, Jennifer Saucier, Jody Wallace, et al.
Genome Medicine|February 4, 2016
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnosticsRegis A James, Ian M Campbell, Edward S Chen, et al.
American Journal of Medical Genetics. Part A|February 10, 2018
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, et al.
Pageof 10