David L. Rimoin

著者: Cohn, Daniel H., Shapiro, Larry J., Kaback, Michael M.
出版事項 2012

Reasons for Non-Disclosure of Sexual Orientation among Behaviorally-Bisexual Men: Non-disclosure as Stigma Management

著者: Schrimshaw, Eric W., Downing, Martin J., Cohn, Daniel J.
出版年 Arch Sex Behav (2016)

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

著者: Li, Bing, Balasubramanian, Karthika, Krakow, Deborah, Cohn, Daniel H.
出版年 BMC Genomics (2017)

Engineering of bio-hybrid materials by electrospinning polymer-microbe fibers

著者: Liu, Ying, Rafailovich, Miriam H., Malal, Ram, Cohn, Daniel, Chidambaram, Dev
出版事項 2009

Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and αVβ3 integrin

著者: Rock, Matthew J., Holden, Paul, Horton, William A., Cohn, Daniel H.
出版事項 2009

Conceptions of Privacy and the Non-disclosure of Same-Sex Behaviour Among Behaviourally-Bisexual Men in Heterosexual Relationships

著者: Schrimshaw, Eric W., Downing, Martin J., Cohn, Daniel J., Siegel, Karolynn
出版事項 2014

Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders()

著者: Weinstein, Michael M., Tompson, Stuart W., Chen, Yuqing, Lee, Brendan, Cohn, Daniel H.
出版事項 2014

Peptidyl 3-Hydroxyproline-Binding Properties of Type I Collagen Suggest a Function in Fibril Supramolecular Assembly

著者: Hudson, David M., Kim, Lammy S., Weis, MaryAnn, Cohn, Daniel H., Eyre, David R.
出版事項 2012

A Second Locus for Schneckenbecken Dysplasia Identified by a Mutation in the Gene Encoding Inositol Polyphosphate Phosphatase-Like 1 (INPPL1)

著者: Lee, Hane, Nevarez, Lisette, Lachman, Ralph S., Wilcox, William R., Krakow, Deborah, Cohn, Daniel H.
出版年 Am J Med Genet A (2015)

A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21

著者: Cohn, Daniel H., Shohat, Tamy, Yahav, Michal, Ilan, Tsafra, Rechavi, Gidi, King, Lily, Shohat, Mordechai
出版事項 2000

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

著者: Hanson-Kahn, Andrea, Li, Bing, Cohn, Daniel H., Nickerson, Deborah A., Bamshad, Michael J., Hudgins, Louanne
出版年 Am J Med Genet A (2018)

Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia

著者: Weinstein, Michael M., Kang, Taekyu, Lachman, Ralph S., Bamshad, Michael, Nickerson, Deborah A., Krakow, Deborah, Cohn, Daniel H.
出版年 Am J Med Genet A (2016)

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

著者: Funari, Vincent A, Day, Allen, Krakow, Deborah, Cohn, Zachary A, Chen, Zugen, Nelson, Stanley F, Cohn, Daniel H
出版事項 2007

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

著者: Zhang, Wenjuan, Taylor, S. Paige, Nevarez, Lisette, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H.
出版年 Hum Mol Genet (2016)

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene

著者: Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.
出版事項 2003

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

著者: Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing
出版年 PLoS Genet (2016)

Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

著者: Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing
出版年 PLoS Genet (2016)

Prevalence of Trachoma in Senegal: Results of Baseline Surveys in 17 Districts

著者: Sarr, Boubacar, Sissoko, Mactar, Fall, Mawo, Nizigama, Lionel, Cohn, Daniel, Willis, Rebecca, Fuller, Brian, O’Neil, Maggie, Solomon, Anthony W
出版年 Ophthalmic Epidemiol (2018)

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

著者: Farrington-Rock, Claire, Kirilova, Veneta, Dillard-Telm, Lisa, Borowsky, Alexander D., Chalk, Sara, Rock, Matthew J., Cohn, Daniel H., Krakow, Deborah
出版事項 2007

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

著者: Lee, Hane, O'Connor, Brian D, Merriman, Barry, Funari, Vincent A, Homer, Nils, Chen, Zugen, Cohn, Daniel H, Nelson, Stanley F
出版事項 2009