Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Alan Shanske

Showing results (11-20 of 20) with videos related to

Pageof 2
Sort By:
You have reached the last page of results.This site can display upto 20 results.
American Journal of Medical Genetics. Part A|November 26, 2010
Retinoid signaling in inner ear development: A "Goldilocks" phenomenonDorothy A Frenz, Wei Liu, Ales Cvekl, et al.
American Journal of Human Genetics|December 20, 2002
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved geneDaniel H Cohn, Nadia Ehtesham, Deborah Krakow, et al.
International Journal of Pediatric Otorhinolaryngology|April 13, 2010
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descentJidong Shan, Janie Chobot-Rodd, Raquel Castellanos, et al.
Journal of Child Neurology|March 30, 2005
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNAStacey K H Tay, Sara Shanske, Carol Crowe, et al.
Human Molecular Genetics|September 27, 2006
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancyVimla S Aggarwal, Jun Liao, Alexei Bondarev, et al.
American Journal of Human Genetics|August 6, 2002
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12Nadia Ehtesham, Rita M Cantor, Lily M King, et al.
Chest|July 17, 2010
Accelerated spirometric decline in New York City firefighters with α₁-antitrypsin deficiencyGisela I Banauch, Mark Brantly, Gabriel Izbicki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2012
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?Brynn Levy, David Tegay, Peter Papenhausen, et al.
Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
American Journal of Medical Genetics. Part A|November 26, 2010
Retinoid signaling in inner ear development: A "Goldilocks" phenomenonDorothy A Frenz, Wei Liu, Ales Cvekl, et al.
American Journal of Human Genetics|December 20, 2002
Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved geneDaniel H Cohn, Nadia Ehtesham, Deborah Krakow, et al.
International Journal of Pediatric Otorhinolaryngology|April 13, 2010
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descentJidong Shan, Janie Chobot-Rodd, Raquel Castellanos, et al.
Journal of Child Neurology|March 30, 2005
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNAStacey K H Tay, Sara Shanske, Carol Crowe, et al.
Human Molecular Genetics|September 27, 2006
Dissection of Tbx1 and Fgf interactions in mouse models of 22q11DS suggests functional redundancyVimla S Aggarwal, Jun Liao, Alexei Bondarev, et al.
American Journal of Human Genetics|August 6, 2002
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12Nadia Ehtesham, Rita M Cantor, Lily M King, et al.
Chest|July 17, 2010
Accelerated spirometric decline in New York City firefighters with α₁-antitrypsin deficiencyGisela I Banauch, Mark Brantly, Gabriel Izbicki, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2012
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?Brynn Levy, David Tegay, Peter Papenhausen, et al.
Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Pageof 2