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Nucleic Acids Research
|
December 21, 2004
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Ada Hamosh, Alan F Scott, Joanna S Amberger, et al.
Nucleic Acids Research
|
December 26, 2001
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Ada Hamosh, Alan F Scott, Joanna Amberger, et al.
Prenatal Diagnosis
|
February 9, 2007
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization
Colyn Cargile Cain, Daniel Saul, Lisa Attanasio, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 22, 2013
A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities
Monica E Lemmon, Bennett Lavenstein, Carolyn D Applegate, et al.
Human Genomics
|
August 14, 2025
Bringing our genomes to medicine - the 2026 human genome meeting
George P Patrinos, Juergen K V Reichardt, Piero Carninci, et al.
Human Mutation
|
February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features
Ada Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 18, 2011
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
Hutton M Kearney, Sarah T South, Daynna J Wolff, et al.
The New England Journal of Medicine
|
June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M Enns, Susan A Berry, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2016
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Angela Pipitone, Donna B Raval, Jessica Duis, et al.
Journal of Medical Genetics
|
November 25, 2010
Mosaic trisomy 13: understanding origin using SNP array
Natini Jinawath, Regina Zambrano, Elizabeth Wohler, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 109) with videos related to
Sort By:
Page
of 11
Nucleic Acids Research
|
December 21, 2004
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Ada Hamosh, Alan F Scott, Joanna S Amberger, et al.
Nucleic Acids Research
|
December 26, 2001
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Ada Hamosh, Alan F Scott, Joanna Amberger, et al.
Prenatal Diagnosis
|
February 9, 2007
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization
Colyn Cargile Cain, Daniel Saul, Lisa Attanasio, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 22, 2013
A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities
Monica E Lemmon, Bennett Lavenstein, Carolyn D Applegate, et al.
Human Genomics
|
August 14, 2025
Bringing our genomes to medicine - the 2026 human genome meeting
George P Patrinos, Juergen K V Reichardt, Piero Carninci, et al.
Human Mutation
|
February 5, 2013
PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features
Ada Hamosh, Nara Sobreira, Julie Hoover-Fong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 18, 2011
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities
Hutton M Kearney, Sarah T South, Daynna J Wolff, et al.
The New England Journal of Medicine
|
June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M Enns, Susan A Berry, Gerard T Berry, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2016
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Angela Pipitone, Donna B Raval, Jessica Duis, et al.
Journal of Medical Genetics
|
November 25, 2010
Mosaic trisomy 13: understanding origin using SNP array
Natini Jinawath, Regina Zambrano, Elizabeth Wohler, et al.
Page
of 11