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H Robin

Showing results (261-270 of 297) with videos related to

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Archives of Neurology|April 30, 1998
Pendular nystagmus in patients with peroxisomal assembly disorderA A Kori, N H Robin, J B Jacobs, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletionYu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
American Heart Journal|April 29, 2006
Intrafamilial variability of noncompaction of the ventricular myocardiumMark T Johnson, Shaoxiong Zhang, Robert Gilkeson, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)Fady M Mikhail, Achara Sathienkijkanchai, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patrick R Gonzales, Erica F Andersen, Teneille R Brown, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Cohen syndrome in the Ohio AmishMarni J Falk, Heidi S Feiler, Derek E Neilson, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Bioorganic & Medicinal Chemistry Letters|November 1, 2003
Heterocyclic ketones as inhibitors of histone deacetylaseAnil Vasudevan, Zhiqin Ji, Robin R Frey, et al.
Human Genetics|August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyRyan K Thorpe, Hela Azaiez, Peina Wu, et al.
Pageof 30

Showing results (261-270 of 297) with videos related to

Sort By:
Pageof 30
Archives of Neurology|April 30, 1998
Pendular nystagmus in patients with peroxisomal assembly disorderA A Kori, N H Robin, J B Jacobs, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletionYu-Wei Cheng, Christopher A Tan, Agata Minor, et al.
American Heart Journal|April 29, 2006
Intrafamilial variability of noncompaction of the ventricular myocardiumMark T Johnson, Shaoxiong Zhang, Robert Gilkeson, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)Fady M Mikhail, Achara Sathienkijkanchai, Nathaniel H Robin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Patrick R Gonzales, Erica F Andersen, Teneille R Brown, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Cohen syndrome in the Ohio AmishMarni J Falk, Heidi S Feiler, Derek E Neilson, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.
Bioorganic & Medicinal Chemistry Letters|November 1, 2003
Heterocyclic ketones as inhibitors of histone deacetylaseAnil Vasudevan, Zhiqin Ji, Robin R Frey, et al.
Human Genetics|August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyRyan K Thorpe, Hela Azaiez, Peina Wu, et al.
Pageof 30