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Gabriele Richard

Showing results (51-60 of 83) with videos related to

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The Journal of Investigative Dermatology|December 21, 2007
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive proteinIlana Chefetz, Danny Ben Amitai, Sarah Browning, et al.
American Journal of Medical Genetics. Part A|March 3, 2007
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patientsGurston G Nyquist, Christina Mumm, Renee Grau, et al.
JAMA Dermatology|January 3, 2020
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted SyndromeApril Zhang, Sabine Duchatelet, Nikita Lakdawala, et al.
American Journal of Human Genetics|September 9, 2006
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, et al.
The Laryngoscope|August 4, 2006
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndromeAndrew J Griffith, Yandan Yang, Shannon P Pryor, et al.
Nature Genetics|May 11, 2004
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosisOrit Topaz, Daniel L Shurman, Reuven Bergman, et al.
American Journal of Human Genetics|June 19, 2012
Familial pityriasis rubra pilaris is caused by mutations in CARD14Dana Fuchs-Telem, Ofer Sarig, Maurice A M van Steensel, et al.
The Journal of Investigative Dermatology|January 8, 2004
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophyMargarita Indelman, Christian P Hamel, Reuven Bergman, et al.
The Journal of Investigative Dermatology|December 1, 2007
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndromeJennie Lugassy, John A McGrath, Peter Itin, et al.
Human Mutation|June 30, 2009
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)Nigel G Laing, Danielle E Dye, Carina Wallgren-Pettersson, et al.
Pageof 9

Showing results (51-60 of 83) with videos related to

Sort By:
Pageof 9
The Journal of Investigative Dermatology|December 21, 2007
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive proteinIlana Chefetz, Danny Ben Amitai, Sarah Browning, et al.
American Journal of Medical Genetics. Part A|March 3, 2007
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patientsGurston G Nyquist, Christina Mumm, Renee Grau, et al.
JAMA Dermatology|January 3, 2020
Targeted Inhibition of the Epidermal Growth Factor Receptor and Mammalian Target of Rapamycin Signaling Pathways in Olmsted SyndromeApril Zhang, Sabine Duchatelet, Nikita Lakdawala, et al.
American Journal of Human Genetics|September 9, 2006
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, et al.
The Laryngoscope|August 4, 2006
Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndromeAndrew J Griffith, Yandan Yang, Shannon P Pryor, et al.
Nature Genetics|May 11, 2004
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosisOrit Topaz, Daniel L Shurman, Reuven Bergman, et al.
American Journal of Human Genetics|June 19, 2012
Familial pityriasis rubra pilaris is caused by mutations in CARD14Dana Fuchs-Telem, Ofer Sarig, Maurice A M van Steensel, et al.
The Journal of Investigative Dermatology|January 8, 2004
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophyMargarita Indelman, Christian P Hamel, Reuven Bergman, et al.
The Journal of Investigative Dermatology|December 1, 2007
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndromeJennie Lugassy, John A McGrath, Peter Itin, et al.
Human Mutation|June 30, 2009
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)Nigel G Laing, Danielle E Dye, Carina Wallgren-Pettersson, et al.
Pageof 9