نتائج البحث - Stuart A. MacGowan
- يعرض 1 - 5 نتائج من 5
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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin حسب Maeve A. McAleer, Elizabeth Pöhler, Frances J.D. Smith, Neil Wilson, Christian Cole, Stuart A. MacGowan, Jennifer L. Koetsier, Lisa M. Godsel, Robert M. Harmon, Robert Gruber, Debra Crumrine, Peter M. Elias, Michael McDermott, Karina Butler, Annemarie Broderick, Ofer Sarig, Eli Sprecher, Kathleen J. Green, W.H. Irwin McLean, Alan D. Irvine
منشور في 2015Artigo -
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Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies حسب Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo, Selma F. Witchel, Andrew Duncan, Caroline Eozénou, Joëlle Bignon-Topalovic, Svetlana A. Yatsenko, Aleksandar Rajkovic, Miguel Reyes‐Múgica, Kristian Almstrup, Leila Fusée, Yogesh Srivastava, Sandra Chantot‐Bastaraud, Capucine Hyon, Christine Louis-Sylvestre, Pierre Validire, Caroline de Malleray Pichard, Célia Ravel, Sophie Christin‐Maître, Raja Brauner, Raffaella Rossetti, Luca Persani, Eduardo H. Charreau, Liliana Daín, Violeta A. Chiauzzi, Inas Mazen, Hassan Rouba, Caroline Schluth–Bolard, Stuart A. MacGowan, W.H. Irwin McLean, Étienne Patin, Ewa Rajpert‐De Meyts, Ralf Jauch, John C. Achermann, Jean‐Pierre Siffroi, Ken McElreavey, Anu Bashamboo
منشور في 2018Artigo -
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations حسب Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou‐Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, B. Chabrol, Valérie Cormier‐Daire, Albert David, B. Eymard, Laurence Faivre, Dominique Figarella‐Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain K. Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israëł-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, S. Mallet, Stuart A. MacGowan, Maeve A. McAleer, W.H. Irwin McLean, C. Méni, Arnold Münnich, Jean-Marie Mussini, Péter L. Nagy, Jeffrey G. Odel, Gráinne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, E. Puzenat, Jacinda B. Sampson, Frances J.D. Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, S. Barbarot, Stéphane Bézieau
منشور في 2015Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Mutation
Missense mutation
Exome sequencing
Medicine
Pathology
Anatomy
Atrophy
Bacteriochlorophyll
Binding site
Biochemistry
Botany
Cell
Chemistry
Chiral symmetry breaking
Chirality (physics)
Chromophore
Context (archaeology)
Desmoplakin
Desmosome
Disorders of sex development
Enzyme
Fibrosis
Genodermatosis
Human genetics
Infertility
Localized Scleroderma
Male infertility