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Barbara R Pober

Showing results (51-60 of 57) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|August 10, 2014
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformaticsMauro Longoni, Frances A High, Meaghan K Russell, et al.
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Journal of the American Heart Association|January 31, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren SyndromeDelong Liu, Charles J Billington, Neelam Raja, et al.
Nature Genetics|September 10, 2002
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesShinji Kondo, Brian C Schutte, Rebecca J Richardson, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
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Showing results (51-60 of 57) with videos related to

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Pageof 6
You have reached the last page of results.This site can display upto 57 results.
Proceedings of the National Academy of Sciences of the United States of America|August 10, 2014
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformaticsMauro Longoni, Frances A High, Meaghan K Russell, et al.
Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.
Human Molecular Genetics|January 22, 2013
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotesStephen R F Twigg, Christian Babbs, Marijke E P van den Elzen, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni, Kasper Lage, Meaghan K Russell, et al.
Journal of the American Heart Association|January 31, 2024
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren SyndromeDelong Liu, Charles J Billington, Neelam Raja, et al.
Nature Genetics|September 10, 2002
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromesShinji Kondo, Brian C Schutte, Rebecca J Richardson, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
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