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

Benjamin D Solomon

Showing results (111-120 of 179) with videos related to

Pageof 18
Sort By:
American Journal of Medical Genetics. Part A|March 19, 2011
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2Nilrat Wannasilp, Benjamin D Solomon, Nicole Warren-Mora, et al.
Brain : a Journal of Neurology|June 26, 2016
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndromeMegan S Kane, Thierry Vilboux, Lynne A Wolfe, et al.
Molecular Genetics & Genomic Medicine|December 18, 2018
Cancer genetics program: Follow-up on clinical genetics and genomic medicine in QatarSalha Bujassoum Al-Bader, Reem Alsulaiman, Hekmet Bugrein, et al.
European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.
American Journal of Medical Genetics. Part A|October 7, 2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez, Benjamin D Solomon, Erich Roessler, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Analysis of genotype-phenotype correlations in human holoprosencephalyBenjamin D Solomon, Sandra Mercier, Jorge I Vélez, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trioDale L Bodian, Benjamin D Solomon, Alina Khromykh, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 25, 2011
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate geneBenjamin D Solomon, Daniel E Pineda-Alvarez, Donald W Hadley, et al.
Molecular Syndromology|January 7, 2016
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective CareAlina Khromykh, Benjamin D Solomon, Dale L Bodian, et al.
Journal of Inherited Metabolic Disease|May 15, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Pageof 18

Showing results (111-120 of 179) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|March 19, 2011
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2Nilrat Wannasilp, Benjamin D Solomon, Nicole Warren-Mora, et al.
Brain : a Journal of Neurology|June 26, 2016
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndromeMegan S Kane, Thierry Vilboux, Lynne A Wolfe, et al.
Molecular Genetics & Genomic Medicine|December 18, 2018
Cancer genetics program: Follow-up on clinical genetics and genomic medicine in QatarSalha Bujassoum Al-Bader, Reem Alsulaiman, Hekmet Bugrein, et al.
European Journal of Human Genetics : EJHG|January 15, 2025
GestaltGAN: synthetic photorealistic portraits of individuals with rare genetic disordersAron Kirchhoff, Alexander Hustinx, Behnam Javanmardi, et al.
American Journal of Medical Genetics. Part A|October 7, 2011
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrumDaniel E Pineda-Alvarez, Benjamin D Solomon, Erich Roessler, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|January 28, 2010
Analysis of genotype-phenotype correlations in human holoprosencephalyBenjamin D Solomon, Sandra Mercier, Jorge I Vélez, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trioDale L Bodian, Benjamin D Solomon, Alina Khromykh, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|May 25, 2011
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate geneBenjamin D Solomon, Daniel E Pineda-Alvarez, Donald W Hadley, et al.
Molecular Syndromology|January 7, 2016
Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective CareAlina Khromykh, Benjamin D Solomon, Dale L Bodian, et al.
Journal of Inherited Metabolic Disease|May 15, 2025
Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment StatusKendall A Flaharty, Vibha Chandrasekar, Irene J Castillo, et al.
Pageof 18