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Margaret J McMillin

Showing results (1-10 of 15) with videos related to

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Human Molecular Genetics|March 6, 2015
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleAlice W Racca, Anita E Beck, Margaret J McMillin, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Genotype-phenotype relationships in Freeman-Sheldon syndromeAnita E Beck, Margaret J McMillin, Heidi I S Gildersleeve, et al.
American Journal of Medical Genetics. Part A|April 26, 2012
Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harmsHolly K Tabor, Jacquie Stock, Tracy Brazg, et al.
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.
American Journal of Medical Genetics. Part A|March 11, 2015
Speech and language in a genotyped cohort of individuals with Kabuki syndromeAngela T Morgan, Cristina Mei, Annette Da Costa, 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.
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|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Human Molecular Genetics|March 6, 2015
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscleAlice W Racca, Anita E Beck, Margaret J McMillin, et al.
American Journal of Medical Genetics. Part A|September 27, 2014
Genotype-phenotype relationships in Freeman-Sheldon syndromeAnita E Beck, Margaret J McMillin, Heidi I S Gildersleeve, et al.
American Journal of Medical Genetics. Part A|April 26, 2012
Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harmsHolly K Tabor, Jacquie Stock, Tracy Brazg, et al.
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.
American Journal of Medical Genetics. Part A|March 11, 2015
Speech and language in a genotyped cohort of individuals with Kabuki syndromeAngela T Morgan, Cristina Mei, Annette Da Costa, 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.
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|December 25, 2012
Mutations in ECEL1 cause distal arthrogryposis type 5DMargaret J McMillin, Jennifer E Below, Kathryn M Shively, et al.
Pageof 2