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J Buckingham

Showing results (111-120 of 126) with videos related to

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American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
HGG Advances|July 17, 2023
Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defectsJessica X Chong, Matthew Carter Childers, Colby T Marvin, et al.
Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defectsJessica X Chong, Matthew Carter Childers, Colby T Marvin, et al.
HGG Advances|June 5, 2025
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosisJoon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, et al.
American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Human Genetics|July 25, 2020
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal ArthrogryposisJessica X Chong, Jared C Talbot, Emily M Teets, et al.
American Journal of Human Genetics|February 25, 2025
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newbornsTara L Wenger, Abbey Scott, Lukas Kruidenier, et al.
American Journal of Human Genetics|December 4, 2020
Response to Hall et alJessica X Chong, Jared C Talbot, Emily M Teets, et al.
Pageof 13

Showing results (111-120 of 126) with videos related to

Sort By:
Pageof 13
American Journal of Human Genetics|April 9, 2013
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylationBobby G Ng, Kati J Buckingham, Kimiyo Raymond, et al.
HGG Advances|July 17, 2023
Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defectsJessica X Chong, Matthew Carter Childers, Colby T Marvin, et al.
Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Variants in <i>ACTC1</i> underlie distal arthrogryposis accompanied by congenital heart defectsJessica X Chong, Matthew Carter Childers, Colby T Marvin, et al.
HGG Advances|June 5, 2025
Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosisJoon-Ho Yu, Katherine E MacDuffie, Olivia Sommerland, et al.
American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.
Nature Genetics|August 17, 2010
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndromeSarah B Ng, Abigail W Bigham, Kati J Buckingham, et al.
American Journal of Human Genetics|May 1, 2012
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndromeFrancois P Bernier, Oana Caluseriu, Sarah Ng, et al.
American Journal of Human Genetics|July 25, 2020
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal ArthrogryposisJessica X Chong, Jared C Talbot, Emily M Teets, et al.
American Journal of Human Genetics|February 25, 2025
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newbornsTara L Wenger, Abbey Scott, Lukas Kruidenier, et al.
American Journal of Human Genetics|December 4, 2020
Response to Hall et alJessica X Chong, Jared C Talbot, Emily M Teets, et al.
Pageof 13