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Gabriele Richard

Showing results (41-50 of 83) with videos related to

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The Journal of Investigative Dermatology|March 22, 2003
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5Eli Sprecher, Gil Yosipovitch, Reuven Bergman, et al.
Human Genetics|September 10, 2005
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationIlana Chefetz, Raoul Heller, Assimina Galli-Tsinopoulou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2012
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disordersSwaroop Aradhya, Rachel Lewis, Tahrra Bonaga, et al.
Archives of Dermatology|March 19, 2008
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B geneMandy Harting, Nicola Brunetti-Pierri, C Stanley Chan, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 22, 2006
Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafnessCharles K Abrams, Mona M Freidin, Vytas K Verselis, et al.
American Journal of Human Genetics|September 9, 2006
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisOrit Topaz, Margarita Indelman, Ilana Chefetz, et al.
American Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.
Molecular Genetics and Metabolism|June 21, 2011
Large contiguous gene deletions in Sjögren-Larsson syndromeHolly Engelstad, Gael Carney, Dana S'aulis, et al.
The Journal of Investigative Dermatology|January 7, 2006
Consequences of depleted SERCA2-gated calcium stores in the skinEliane J Müller, Reto Caldelari, Carine Kolly, et al.
Journal of the American Academy of Dermatology|March 22, 2002
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous familiesAoi Nakano, Gilles G Lestringant, Tamar Paperna, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
The Journal of Investigative Dermatology|March 22, 2003
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5Eli Sprecher, Gil Yosipovitch, Reuven Bergman, et al.
Human Genetics|September 10, 2005
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcificationIlana Chefetz, Raoul Heller, Assimina Galli-Tsinopoulou, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2012
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disordersSwaroop Aradhya, Rachel Lewis, Tahrra Bonaga, et al.
Archives of Dermatology|March 19, 2008
Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B geneMandy Harting, Nicola Brunetti-Pierri, C Stanley Chan, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 22, 2006
Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafnessCharles K Abrams, Mona M Freidin, Vytas K Verselis, et al.
American Journal of Human Genetics|September 9, 2006
A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosisOrit Topaz, Margarita Indelman, Ilana Chefetz, et al.
American Journal of Human Genetics|March 26, 2002
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndromeGabriele Richard, Fatima Rouan, Colin E Willoughby, et al.
Molecular Genetics and Metabolism|June 21, 2011
Large contiguous gene deletions in Sjögren-Larsson syndromeHolly Engelstad, Gael Carney, Dana S'aulis, et al.
The Journal of Investigative Dermatology|January 7, 2006
Consequences of depleted SERCA2-gated calcium stores in the skinEliane J Müller, Reto Caldelari, Carine Kolly, et al.
Journal of the American Academy of Dermatology|March 22, 2002
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous familiesAoi Nakano, Gilles G Lestringant, Tamar Paperna, et al.
Pageof 9