Cornelius F Boerkoel - JoVE Visualize

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Genome Research|May 9, 2002

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi, Jiong Yan, Pawe Stankiewicz, et al.

Human Mutation|February 8, 2012

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegiaCristina Dias, Murat Sincan, Praveen F Cherukuri, et al.

Pediatric Rheumatology Online Journal|September 15, 2011

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasiaJakub Zieg, Anna Krepelova, Alireza Baradaran-Heravi, et al.

Nature Genetics|April 10, 2002

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeGayle B Collin, Jan D Marshall, Akihiro Ikeda, et al.

American Journal of Medical Genetics. Part A|August 10, 2022

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?Nour Gazzaz, F Graeme Frost, Emily Alderman, et al.

Proceedings of the National Academy of Sciences of the United States of America|August 24, 2016

Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancerSupipi Duffy, Hok Khim Fam, Yi Kan Wang, et al.

American Journal of Medical Genetics. Part A|August 12, 2016

Phenotypic evolution of UNC80 loss of functionElise Valkanas, Katherine Schaffer, Christopher Dunham, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2016

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experienceElizabeth M J Lee, Karen Xu, Emma Mosbrook, et al.

Nature Genetics|September 24, 2002

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyHiroshi Takashima, Cornelius F Boerkoel, Joy John, et al.

American Journal of Human Genetics|January 26, 2016

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationMegan S Kane, Mariska Davids, Christopher Adams, et al.

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Showing results (61-70 of 134) with videos related to

Sort By:

Pageof 14

Genome Research|May 9, 2002

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi, Jiong Yan, Pawe Stankiewicz, et al.

Human Mutation|February 8, 2012

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegiaCristina Dias, Murat Sincan, Praveen F Cherukuri, et al.

Pediatric Rheumatology Online Journal|September 15, 2011

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasiaJakub Zieg, Anna Krepelova, Alireza Baradaran-Heravi, et al.

Nature Genetics|April 10, 2002

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndromeGayle B Collin, Jan D Marshall, Akihiro Ikeda, et al.

American Journal of Medical Genetics. Part A|August 10, 2022

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?Nour Gazzaz, F Graeme Frost, Emily Alderman, et al.

Proceedings of the National Academy of Sciences of the United States of America|August 24, 2016

Overexpression screens identify conserved dosage chromosome instability genes in yeast and human cancerSupipi Duffy, Hok Khim Fam, Yi Kan Wang, et al.

American Journal of Medical Genetics. Part A|August 12, 2016

Phenotypic evolution of UNC80 loss of functionElise Valkanas, Katherine Schaffer, Christopher Dunham, et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2016

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experienceElizabeth M J Lee, Karen Xu, Emma Mosbrook, et al.

Nature Genetics|September 24, 2002

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyHiroshi Takashima, Cornelius F Boerkoel, Joy John, et al.

American Journal of Human Genetics|January 26, 2016

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of GlycosylationMegan S Kane, Mariska Davids, Christopher Adams, et al.

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