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Gabriele Richard

Showing results (21-30 of 83) with videos related to

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Pediatric Dermatology|October 28, 2008
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?Tamara Lazic, Kimberly A Horii, Gabriele Richard, et al.
The American Journal of Dermatopathology|May 19, 2005
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosisOrit Topaz, Reuven Bergman, Ulla Mandel, et al.
Dermatology Online Journal|September 13, 2016
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case reportAndac Salman, Dilek Seckin Gencosmanoglu, Ayse Deniz Yucelten, et al.
Journal of Cell Science|June 28, 2003
Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43Valerie Lagree, Karin Brunschwig, Patricia Lopez, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphiaMonica N Valentin, Benjamin D Solomon, Gabriele Richard, et al.
American Journal of Medical Genetics. Part A|November 2, 2011
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic featuresVazken M Der Kaloustian, Laura Russell, Swaroop Aradhya, et al.
European Journal of Dermatology : EJD|May 20, 2006
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosisSusan C Kelly, Paulina Ratajczak, Matthew Keller, et al.
Dermatology (Basel, Switzerland)|June 9, 2005
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5Adam S Geyer, Paulina Ratajczak, Marlyanne Pol-Rodriguez, et al.
European Journal of Dermatology : EJD|April 4, 2006
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to dateDaniel Shurman, Jacqueline Losi-Sasaki, Ronald Grimwood, et al.
Journal of Molecular Medicine (Berlin, Germany)|December 16, 2004
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disordersYaacov Frishberg, Orit Topaz, Reuven Bergman, et al.
Pageof 9

Showing results (21-30 of 83) with videos related to

Sort By:
Pageof 9
Pediatric Dermatology|October 28, 2008
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?Tamara Lazic, Kimberly A Horii, Gabriele Richard, et al.
The American Journal of Dermatopathology|May 19, 2005
Absence of intraepidermal glycosyltransferase ppGalNac-T3 expression in familial tumoral calcinosisOrit Topaz, Reuven Bergman, Ulla Mandel, et al.
Dermatology Online Journal|September 13, 2016
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case reportAndac Salman, Dilek Seckin Gencosmanoglu, Ayse Deniz Yucelten, et al.
Journal of Cell Science|June 28, 2003
Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43Valerie Lagree, Karin Brunschwig, Patricia Lopez, et al.
American Journal of Medical Genetics. Part A|October 6, 2018
Basan gets a new fingerprint: Mutations in the skin-specific isoform of SMARCAD1 cause ectodermal dysplasia syndromes with adermatoglyphiaMonica N Valentin, Benjamin D Solomon, Gabriele Richard, et al.
American Journal of Medical Genetics. Part A|November 2, 2011
A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic featuresVazken M Der Kaloustian, Laura Russell, Swaroop Aradhya, et al.
European Journal of Dermatology : EJD|May 20, 2006
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosisSusan C Kelly, Paulina Ratajczak, Matthew Keller, et al.
Dermatology (Basel, Switzerland)|June 9, 2005
Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5Adam S Geyer, Paulina Ratajczak, Marlyanne Pol-Rodriguez, et al.
European Journal of Dermatology : EJD|April 4, 2006
Epidermolysis Bullosa Simplex with mottled pigmentation: mutation analysis in the first reported Hispanic pedigree with the largest single generation of affected individuals to dateDaniel Shurman, Jacqueline Losi-Sasaki, Ronald Grimwood, et al.
Journal of Molecular Medicine (Berlin, Germany)|December 16, 2004
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disordersYaacov Frishberg, Orit Topaz, Reuven Bergman, et al.
Pageof 9