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Daniel H Cohn

Showing results (11-20 of 81) with videos related to

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Medicina Clinica|February 10, 2007
[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]María Luisa Martínez-Frías, Valerie Cormier-Daire, Daniel H Cohn, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutationAndrea Hanson-Kahn, Bing Li, Daniel H Cohn, et al.
Pediatric Radiology|August 25, 2011
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)Stefan F Nemec, Daniel H Cohn, Deborah Krakow, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasiaMichael M Weinstein, Taekyu Kang, Ralph S Lachman, et al.
JCI Insight|October 5, 2023
Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growthJennifer Zieba, Lisette Nevarez, Davis Wachtell, et al.
BMC Genomics|June 15, 2007
Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expressionVincent A Funari, Allen Day, Deborah Krakow, et al.
Plos Genetics|December 10, 2016
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisFelipe Marques, Jessica Tenney, Ivan Duran, et al.
The Journal of Clinical Endocrinology and Metabolism|February 12, 2002
Genetic heterogeneity in familial renal magnesium wastingVitaly Kantorovich, John S Adams, Jade E Gaines, et al.
Plos Genetics|September 14, 2016
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisFelipe Marques, Jessica Tenney, Ivan Duran, 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.
Pageof 9

Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
Medicina Clinica|February 10, 2007
[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]María Luisa Martínez-Frías, Valerie Cormier-Daire, Daniel H Cohn, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Autosomal recessive Stickler syndrome resulting from a COL9A3 mutationAndrea Hanson-Kahn, Bing Li, Daniel H Cohn, et al.
Pediatric Radiology|August 25, 2011
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)Stefan F Nemec, Daniel H Cohn, Deborah Krakow, et al.
American Journal of Medical Genetics. Part A|August 18, 2016
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasiaMichael M Weinstein, Taekyu Kang, Ralph S Lachman, et al.
JCI Insight|October 5, 2023
Altered Sox9 and FGF signaling gene expression in Aga2 OI mice negatively affects linear growthJennifer Zieba, Lisette Nevarez, Davis Wachtell, et al.
BMC Genomics|June 15, 2007
Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expressionVincent A Funari, Allen Day, Deborah Krakow, et al.
Plos Genetics|December 10, 2016
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisFelipe Marques, Jessica Tenney, Ivan Duran, et al.
The Journal of Clinical Endocrinology and Metabolism|February 12, 2002
Genetic heterogeneity in familial renal magnesium wastingVitaly Kantorovich, John S Adams, Jade E Gaines, et al.
Plos Genetics|September 14, 2016
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial DysostosisFelipe Marques, Jessica Tenney, Ivan Duran, 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.
Pageof 9