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Gabriele Richard

Showing results (11-20 of 83) with videos related to

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The Journal of Investigative Dermatology|October 16, 2004
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2Gabriele Richard, Nkecha Brown, Akemi Ishida-Yamamoto, et al.
The Journal of Investigative Dermatology|January 19, 2006
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin typeElizabeth S Richardson, Jason B Lee, Patricia H Hyde, et al.
Journal of Genetic Counseling|August 19, 2015
Clinical and Counseling Experiences of Early Adopters of Whole Exome SequencingShubhangi Arora, Eden Haverfield, Gabriele Richard, et al.
American Journal of Physiology. Cell Physiology|April 13, 2007
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafnessDwan A Gerido, Adam M DeRosa, Gabriele Richard, et al.
Biochimica Et Biophysica Acta|November 4, 2008
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activityIlana Chefetz, Kimitoshi Kohno, Hiroto Izumi, et al.
Pediatric Dermatology|July 22, 2017
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin GirlsHaneol S Jeong, Tara Funari, Katherine Gordon, et al.
The Journal of Investigative Dermatology|May 14, 2004
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichiaAmy Y Jan, Shivan Amin, Paulina Ratajczak, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
In vivo and in vitro expression of connexins in the human corneal epitheliumDaniel L Shurman, Lisa Glazewski, Anna Gumpert, et al.
Journal of the American Academy of Dermatology|September 27, 2003
Type 1 segmental manifestation of Hailey-Hailey diseaseLinda Y Hwang, Jason B Lee, Gabriele Richard, et al.
European Journal of Dermatology : EJD|August 4, 2007
Topical tacrolimus treatment for chronic dermatitis of the earWolfgang Harth, Philipp P Caffier, Babak Mayelzadeh, et al.
Pageof 9

Showing results (11-20 of 83) with videos related to

Sort By:
Pageof 9
The Journal of Investigative Dermatology|October 16, 2004
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2Gabriele Richard, Nkecha Brown, Akemi Ishida-Yamamoto, et al.
The Journal of Investigative Dermatology|January 19, 2006
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin typeElizabeth S Richardson, Jason B Lee, Patricia H Hyde, et al.
Journal of Genetic Counseling|August 19, 2015
Clinical and Counseling Experiences of Early Adopters of Whole Exome SequencingShubhangi Arora, Eden Haverfield, Gabriele Richard, et al.
American Journal of Physiology. Cell Physiology|April 13, 2007
Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafnessDwan A Gerido, Adam M DeRosa, Gabriele Richard, et al.
Biochimica Et Biophysica Acta|November 4, 2008
GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activityIlana Chefetz, Kimitoshi Kohno, Hiroto Izumi, et al.
Pediatric Dermatology|July 22, 2017
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin GirlsHaneol S Jeong, Tara Funari, Katherine Gordon, et al.
The Journal of Investigative Dermatology|May 14, 2004
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichiaAmy Y Jan, Shivan Amin, Paulina Ratajczak, et al.
Investigative Ophthalmology & Visual Science|May 26, 2005
In vivo and in vitro expression of connexins in the human corneal epitheliumDaniel L Shurman, Lisa Glazewski, Anna Gumpert, et al.
Journal of the American Academy of Dermatology|September 27, 2003
Type 1 segmental manifestation of Hailey-Hailey diseaseLinda Y Hwang, Jason B Lee, Gabriele Richard, et al.
European Journal of Dermatology : EJD|August 4, 2007
Topical tacrolimus treatment for chronic dermatitis of the earWolfgang Harth, Philipp P Caffier, Babak Mayelzadeh, et al.
Pageof 9