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Showing results (41-50 of 56) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
AJNR. American Journal of Neuroradiology|June 30, 2022
Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain TumorsC A P F Alves, O Sherbini, F D'Arco, et al.
BMJ Open|March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational studyDaniel Assamad, Abigail Hansen, Katharine Fooks, et al.
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Journal of Genetic Counseling|May 5, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencingAbigail Hansen, Stephanie Luca, Olivia Moran, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 6, 2021
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersBekim Sadikovic, Michael A Levy, Jennifer Kerkhof, et al.
European Journal of Human Genetics : EJHG|May 15, 2023
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individualsHenrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, et al.
Human Mutation|January 14, 2018
Genotype-phenotype correlations in individuals with pathogenic RERE variantsValerie K Jordan, Brieana Fregeau, Xiaoyan Ge, et al.
AJNR. American Journal of Neuroradiology|June 30, 2022
Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain TumorsC A P F Alves, O Sherbini, F D'Arco, et al.
BMJ Open|March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational studyDaniel Assamad, Abigail Hansen, Katharine Fooks, et al.
American Journal of Human Genetics|August 1, 2024
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformationsSadegheh Haghshenas, Karim Karimi, Roger E Stevenson, et al.
Journal of Genetic Counseling|May 5, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencingAbigail Hansen, Stephanie Luca, Olivia Moran, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalitiesFuad Chowdhury, Lei Wang, Mohammed Al-Raqad, et al.
Pageof 6