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Anne V Hing

Showing results (31-40 of 37) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
American Journal of Human Genetics|May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndromeMark J Rieder, Glenn E Green, Sarah S Park, et al.
Nature Genetics|December 17, 2008
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesisZandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
American Journal of Human Genetics|May 29, 2018
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft PalateLiza L Cox, Timothy C Cox, Lina M Moreno Uribe, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
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Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesityRuxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, et al.
American Journal of Human Genetics|May 8, 2012
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndromeMark J Rieder, Glenn E Green, Sarah S Park, et al.
Nature Genetics|December 17, 2008
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesisZandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.
Nature Communications|August 4, 2021
Haploinsufficiency of SF3B2 causes craniofacial microsomiaAndrew T Timberlake, Casey Griffin, Carrie L Heike, et al.
American Journal of Human Genetics|May 29, 2018
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft PalateLiza L Cox, Timothy C Cox, Lina M Moreno Uribe, et al.
American Journal of Human Genetics|July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variationDanny E Miller, Arvis Sulovari, Tianyun Wang, et al.
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