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Celia Moss

Showing results (41-50 of 70) with videos related to

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Journal of Cutaneous Pathology|August 11, 2017
Congenital cutaneous lymphadenomaAngel Fernandez-Flores, Ina Nicklaus-Wollenteit, Dharshini Sathishkumar, et al.
American Journal of Medical Genetics. Part A|September 5, 2003
Deletion of the SLUG (SNAI2) gene results in human piebaldismManuel Sánchez-Martín, Jesús Pérez-Losada, Arancha Rodríguez-García, et al.
Journal of Medical Genetics|November 16, 2006
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1Rosalie E Ferner, Susan M Huson, Nick Thomas, et al.
The British Journal of Dermatology|December 20, 2021
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa databaseGabriela Petrof, Maria Papanikolaou, Anna E Martinez, et al.
The Journal of Investigative Dermatology|January 24, 2017
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexJohn Y W Lee, Lu Liu, Chao-Kai Hsu, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?Kenneth Maclean, Stephen A Holme, Elizabeth Gilmour, et al.
Human Molecular Genetics|January 9, 2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorderJi Hoon Han, Gavin Ryan, Alyson Guy, et al.
Acta Dermato-Venereologica|March 31, 2011
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosaNoor Almaani, Lu Liu, Patricia J C Dopping-Hepenstal, et al.
The Journal of Investigative Dermatology|January 9, 2016
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa SimplexDharshini Sathishkumar, Elizabeth Orrin, Ana Terron-Kwiatkowski, et al.
The Journal of Clinical Endocrinology and Metabolism|March 23, 2016
Steroid Sulfatase Deficiency and Androgen Activation Before and After PubertyJan Idkowiak, Angela E Taylor, Sandra Subtil, et al.
Pageof 7

Showing results (41-50 of 70) with videos related to

Sort By:
Pageof 7
Journal of Cutaneous Pathology|August 11, 2017
Congenital cutaneous lymphadenomaAngel Fernandez-Flores, Ina Nicklaus-Wollenteit, Dharshini Sathishkumar, et al.
American Journal of Medical Genetics. Part A|September 5, 2003
Deletion of the SLUG (SNAI2) gene results in human piebaldismManuel Sánchez-Martín, Jesús Pérez-Losada, Arancha Rodríguez-García, et al.
Journal of Medical Genetics|November 16, 2006
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1Rosalie E Ferner, Susan M Huson, Nick Thomas, et al.
The British Journal of Dermatology|December 20, 2021
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa databaseGabriela Petrof, Maria Papanikolaou, Anna E Martinez, et al.
The Journal of Investigative Dermatology|January 24, 2017
Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa SimplexJohn Y W Lee, Lu Liu, Chao-Kai Hsu, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?Kenneth Maclean, Stephen A Holme, Elizabeth Gilmour, et al.
Human Molecular Genetics|January 9, 2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorderJi Hoon Han, Gavin Ryan, Alyson Guy, et al.
Acta Dermato-Venereologica|March 31, 2011
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosaNoor Almaani, Lu Liu, Patricia J C Dopping-Hepenstal, et al.
The Journal of Investigative Dermatology|January 9, 2016
The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa SimplexDharshini Sathishkumar, Elizabeth Orrin, Ana Terron-Kwiatkowski, et al.
The Journal of Clinical Endocrinology and Metabolism|March 23, 2016
Steroid Sulfatase Deficiency and Androgen Activation Before and After PubertyJan Idkowiak, Angela E Taylor, Sandra Subtil, et al.
Pageof 7