Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

David Chitayat

Showing results (291-300 of 354) with videos related to

Pageof 36
Sort By:
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.
Prenatal Diagnosis|December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysisGillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
BMC Pregnancy and Childbirth|February 12, 2022
Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping reviewShira Gold, Lauren Clarfield, Jennie Johnstone, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disordersMasahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
Pageof 36

Showing results (291-300 of 354) with videos related to

Sort By:
Pageof 36
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.
Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.
Prenatal Diagnosis|December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysisGillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.
Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of <i>MAGEL2</i>-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.
BMC Pregnancy and Childbirth|February 12, 2022
Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping reviewShira Gold, Lauren Clarfield, Jennie Johnstone, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disordersMasahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
Pageof 36