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Kathryn M Shively

Showing results (1-10 of 13) with videos related to

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American Journal of Medical Genetics. Part A|February 13, 2013
Spectrum of mutations that cause distal arthrogryposis types 1 and 2BAnita E Beck, Margaret J McMillin, Heidi I S Gildersleeve, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|August 17, 2013
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx catsKati J Buckingham, Margaret J McMillin, Margaret M Brassil, 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.
American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, 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.
American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
American Journal of Human Genetics|April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndromeAlexander G Marneros, Anita E Beck, Emily H Turner, 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 2

Showing results (1-10 of 13) with videos related to

Sort By:
Pageof 2
American Journal of Medical Genetics. Part A|February 13, 2013
Spectrum of mutations that cause distal arthrogryposis types 1 and 2BAnita E Beck, Margaret J McMillin, Heidi I S Gildersleeve, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|August 17, 2013
Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx catsKati J Buckingham, Margaret J McMillin, Margaret M Brassil, 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.
American Journal of Human Genetics|January 1, 2013
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasiaJennifer E Below, Dawn L Earl, Kathryn M Shively, 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.
American Journal of Human Genetics|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
American Journal of Human Genetics|April 2, 2013
Mutations in KCTD1 cause scalp-ear-nipple syndromeAlexander G Marneros, Anita E Beck, Emily H Turner, 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 2