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G Monaghan

Showing results (161-170 of 229) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
Science Advances|September 25, 2024
Loss of synovial tissue macrophage homeostasis precedes rheumatoid arthritis clinical onsetMegan M Hanlon, Conor M Smith, Mary Canavan, et al.
American Journal of Human Genetics|March 21, 2000
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American populationD C Crawford, C E Schwartz, K L Meadows, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
European Journal of Medical Genetics|November 29, 2019
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanismAditi Gupta, Nikita R Dsouza, Yuri A Zarate, et al.
Clinical Genetics|August 22, 2024
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?Marlène Malbos, Gabriella Vera, Harsh Sheth, et al.
Human Molecular Genetics|April 9, 2022
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humansAnne Guimier, Loïc de Pontual, Stephen R Braddock, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.
The Journal of Molecular Diagnostics : JMD|September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testingShannon D Barker, Sherri Bale, Jessica Booker, et al.
Pageof 23

Showing results (161-170 of 229) with videos related to

Sort By:
Pageof 23
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 4, 2015
Clinical application of whole-exome sequencing across clinical indicationsKyle Retterer, Jane Juusola, Megan T Cho, et al.
Science Advances|September 25, 2024
Loss of synovial tissue macrophage homeostasis precedes rheumatoid arthritis clinical onsetMegan M Hanlon, Conor M Smith, Mary Canavan, et al.
American Journal of Human Genetics|March 21, 2000
Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African American populationD C Crawford, C E Schwartz, K L Meadows, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
European Journal of Medical Genetics|November 29, 2019
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanismAditi Gupta, Nikita R Dsouza, Yuri A Zarate, et al.
Clinical Genetics|August 22, 2024
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?Marlène Malbos, Gabriella Vera, Harsh Sheth, et al.
Human Molecular Genetics|April 9, 2022
Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humansAnne Guimier, Loïc de Pontual, Stephen R Braddock, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.
The Journal of Molecular Diagnostics : JMD|September 22, 2009
Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testingShannon D Barker, Sherri Bale, Jessica Booker, et al.
Pageof 23