Search research articles
Contact Us
Filters
Showing results (11-20 of 109) with videos related to
Page
of 11
Sort By:
Human Mutation
|
July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene
Nara Sobreira, François Schiettecatte, David Valle, et al.
JIMD Reports
|
November 8, 2024
Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency
Callie Ferguson, Anita Madison, Ada Hamosh, et al.
Molecular Genetics & Genomic Medicine
|
July 7, 2022
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report
Suraj Kannan, Joann N Bodurtha, Ada Hamosh, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2021
Three decades of the Human Genome Organization
Charles Lee, Stylianos E Antonarakis, Ada Hamosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 18, 2014
Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles
Adam C Diehl, Lauren Reader, Ada Hamosh, et al.
Human Mutation
|
February 17, 2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene
Nara Sobreira, François Schiettecatte, Corinne Boehm, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2014
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Carlos Ferreira, Andrea Poretti, Julie Cohen, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2021
Viewing Victor McKusick's legacy through the lens of his bibliography
Sonja A Rasmussen, Ariel Pomputius, Joanna S Amberger, et al.
Nucleic Acids Research
|
October 10, 2008
McKusick's Online Mendelian Inheritance in Man (OMIM)
Joanna Amberger, Carol A Bocchini, Alan F Scott, et al.
Current Protocols
|
September 21, 2022
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout
Carolyn D Applegate, François Schiettecatte, Ada Hamosh, et al.
Page
of 11
Search research articles
Search
Showing results (11-20 of 109) with videos related to
Sort By:
Page
of 11
Human Mutation
|
July 30, 2015
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene
Nara Sobreira, François Schiettecatte, David Valle, et al.
JIMD Reports
|
November 8, 2024
Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency
Callie Ferguson, Anita Madison, Ada Hamosh, et al.
Molecular Genetics & Genomic Medicine
|
July 7, 2022
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report
Suraj Kannan, Joann N Bodurtha, Ada Hamosh, et al.
American Journal of Medical Genetics. Part A
|
September 28, 2021
Three decades of the Human Genome Organization
Charles Lee, Stylianos E Antonarakis, Ada Hamosh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 18, 2014
Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles
Adam C Diehl, Lauren Reader, Ada Hamosh, et al.
Human Mutation
|
February 17, 2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene
Nara Sobreira, François Schiettecatte, Corinne Boehm, et al.
American Journal of Medical Genetics. Part A
|
April 8, 2014
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
Carlos Ferreira, Andrea Poretti, Julie Cohen, et al.
American Journal of Medical Genetics. Part A
|
June 23, 2021
Viewing Victor McKusick's legacy through the lens of his bibliography
Sonja A Rasmussen, Ariel Pomputius, Joanna S Amberger, et al.
Nucleic Acids Research
|
October 10, 2008
McKusick's Online Mendelian Inheritance in Man (OMIM)
Joanna Amberger, Carol A Bocchini, Alan F Scott, et al.
Current Protocols
|
September 21, 2022
Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout
Carolyn D Applegate, François Schiettecatte, Ada Hamosh, et al.
Page
of 11