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

Angela E Lin

Showing results (151-160 of 170) with videos related to

Pageof 17
Sort By:
European Journal of Human Genetics : EJHG|September 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Genotype-phenotype analysis of the branchio-oculo-facial syndromeJeff M Milunsky, Tom M Maher, Geping Zhao, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
American Journal of Medical Genetics. Part A|May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
Pageof 17

Showing results (151-160 of 170) with videos related to

Sort By:
Pageof 17
European Journal of Human Genetics : EJHG|September 10, 2024
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Human Genetics : EJHG|July 12, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlationsEva Vanbelleghem, Tim Van Damme, Aude Beyens, et al.
European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Genotype-phenotype analysis of the branchio-oculo-facial syndromeJeff M Milunsky, Tom M Maher, Geping Zhao, et al.
American Journal of Human Genetics|September 1, 2015
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaBjörn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and backKatherine A Rauen, Lisa Schoyer, Frank McCormick, et al.
Human Mutation|March 21, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyGemma L Carvill, Katherine L Helbig, Candace T Myers, et al.
Ebiomedicine|April 25, 2025
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnosticsChristopher C Y Mak, Hannah Klinkhammer, Sanaa Choufani, et al.
American Journal of Medical Genetics. Part A|May 23, 2024
Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)Angela E Lin, Eleanor R Scimone, Robyn P Thom, et al.
Nature Genetics|June 26, 2012
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromesJean-Baptiste Rivière, Ghayda M Mirzaa, Brian J O'Roak, et al.
Pageof 17