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المؤلفون: Anne W. Lucky, Lawrence F. Eichenfield, John J. DiGiovanna, Erin F. Mathes, Latanya Benjamin, Keith A. Choate, Lauren Thaxton, Nicole S. Stefanko, Philip Fleckman, Richard A. Lewis, Joyce M.C. Teng, Leslie P. Lawley, Leonard M. Milstone, Sherry A. Tanumihardjo, Mary L. Williams, Moise L. Levy, Brittany G. Craiglow, Anna L. Bruckner, Peter M. Elias, Sonali S. Patel, Amy S. Paller, Andrea L. Zaenglein, Dawn H. Siegel
المصدر: Journal of the American Academy of Dermatology. 86:158-161
مصطلحات موضوعية: medicine.medical_specialty, Consensus, Skin Neoplasms, Executive summary, Adolescent, business.industry, Ichthyosis, Best practice, Delphi method, MEDLINE, Apoptosis, Dermatology, medicine.disease, Retinoids, Expert opinion, Family medicine, Humans, Medicine, Pediatric dermatology, Child, business
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2
المؤلفون: Ruth R. Wexler, Kenneth G. Mann, Leonard M. Milstone, Rodney M. Camire, Jeremy P. Wood, Wolfram Ruf, Robert M. Knabb, Richard C. Becker, Craig M Jackson
المصدر: Journal of Thrombosis and Thrombolysis
مصطلحات موضوعية: Traditional medicine, business.industry, Factor X, MEDLINE, Hematology, Article, Thromboplastin, chemistry.chemical_compound, chemistry, Factor Xa, Medicine, Humans, Blood Coagulation Tests, Anti-coagulants, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Leonard M. Milstone
المصدر: Journal of Thrombosis and Thrombolysis. 52:364-370
مصطلحات موضوعية: chemistry.chemical_compound, chemistry, business.industry, Factor X, Medicine, Haskell, Context (language use), Hematology, Cardiology and Cardiovascular Medicine, business, computer, Classics, computer.programming_language
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4
المؤلفون: Christine Wassel, Lisa Breuning, Shane M Swink, Jennifer L. Hand, Sarah Asch, Jean R. Pickford, Leslie Castelo-Soccio, Karina L. Vivar, Leonard M. Milstone
المصدر: Pediatric Dermatology. 38:137-142
مصطلحات موضوعية: medicine.medical_specialty, Telemedicine, Teledermatology, Patient Advocacy, Dermatology, Patient advocacy, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Physicians, Health care, medicine, Humans, Child, Retrospective Studies, Service (business), Descriptive statistics, Ichthyosis, business.industry, Retrospective cohort study, medicine.disease, 030220 oncology & carcinogenesis, Family medicine, Pediatrics, Perinatology and Child Health, business
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المؤلفون: Jonathan L. Levinsohn, Leonard M. Milstone, Keith A. Choate, Nareh M. Burgren, Shayan Cheraghlou, Rong Hua Hu, Corey Saraceni, Jing Zhou, Ivy Ren, Carol Nelson-Williams, Richard P. Lifton, Margarita Larralde, Ryan Fan, Erin Loring, Lionel Bercovitch, Lynn M. Boyden, Amy S. Paller, Theodore Zaki, Qisi Sun, Brittany G. Craiglow, Charlie Tian
المصدر: JAMA Dermatol
مصطلحات موضوعية: Male, medicine.medical_specialty, business.industry, Genetic heterogeneity, Ichthyosis, Dermatology, Odds ratio, Genomics, Skin infection, medicine.disease, Cohort Studies, Phenotype, Internal medicine, Cohort, Medicine, Humans, Female, business, Exome sequencing, Ichthyosis, Lamellar, Genetic association, Cohort study, Original Investigation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfdd9f9942ca0c1583042d49a1c6fb2b
https://pubmed.ncbi.nlm.nih.gov/34851365 -
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المصدر: J Dermatol Sci
مصطلحات موضوعية: Models, Molecular, Keratitis–ichthyosis–deafness syndrome, Connexin, Dermatology, Crystallography, X-Ray, medicine.disease_cause, Biochemistry, Article, Connexins, Protein stability, Protein structure, medicine, Humans, Protein Structure, Quaternary, Molecular Biology, Gene, Keratitis, Mutation, Protein Stability, Extramural, Chemistry, Carbon Dioxide, medicine.disease, Molecular biology, Connexin 26, Thermodynamics, Genes, Lethal
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7
المؤلفون: Alexander Maley, Barbara Binder, Adam E. Bennett, Karina L. Vivar, Keith A. Choate, Yasushi Ogawa, Amy Theos, Robert Sidbury, Earl J. Glusac, Gabriele Richard, Evelyn Lilly, Mary K. Spraker, Smail Hadj-Rabia, Masashi Akiyama, Raffaella A. Morotti, Shali Zhang, Lucia Seminario-Vidal, Christopher G. Bunick, Leonard M. Milstone
المصدر: Journal of the American Academy of Dermatology. 80:617-625
مصطلحات موضوعية: Male, Models, Molecular, Pediatrics, medicine.medical_specialty, Genotype, Dermatology, Serious infection, Deafness, Poor weight gain, Connexins, Infant Death, Article, Congenital Abnormalities, Keratitis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, otorhinolaryngologic diseases, Humans, Medicine, Genotyping, Molecular Structure, business.industry, Ichthyosis, Body Weight, Infant, Newborn, Infant, medicine.disease, humanities, Pathophysiology, Infant mortality, Failure to Thrive, Connexin 26, 030220 oncology & carcinogenesis, Mutation, Female, Respiratory Tract Fistula, business
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8
المؤلفون: Vanessa Gildenstern, Keith A. Choate, Young H. Lim, Patrick Nitschké, Alain Hovnanian, Yolanda R. Helfrich, Richard P. Lifton, Christine Bole-Feysot, S. Duchatelet, Raúl de Lucas, Leonard M. Milstone, Lynn M. Boyden, Laura D. Attardi, Fernando Santos-Simarro, Laure Guibbal, Akemi Ishida-Yamamoto, Jing Zhou, Ronghua Hu
المساهمون: Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Yale University School of Medicine, Asahikawa Medical College, University of Michigan System, Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University
المصدر: Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, 139, pp.380-390. ⟨10.1016/j.jid.2018.08.026⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madridمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Dermatology, Biology, Biochemistry, Article, Loss of heterozygosity, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Keratoderma, Palmoplantar, Keratin, Cell Adhesion, medicine, Humans, Genes, Tumor Suppressor, Child, Frameshift Mutation, Keratoderma, Molecular Biology, Gene, chemistry.chemical_classification, integumentary system, Homozygote, Membrane Proteins, Desmosomes, Exons, Cell Biology, medicine.disease, Cell biology, Microscopy, Electron, 030104 developmental biology, Palmoplantar keratoderma, chemistry, OLMSTED SYNDROME, Codon, Nonsense, Child, Preschool, 030220 oncology & carcinogenesis, Mendelian inheritance, symbols, Female, Epidermis, Intracellular
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1881eb74feafba970319d94afe510fa
https://doi.org/10.1016/j.jid.2018.08.026 -
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المؤلفون: Leonard M, Milstone
المصدر: Journal of thrombosis and thrombolysis. 52(2)
مصطلحات موضوعية: Factor Xa, Humans, Prothrombin
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المؤلفون: Moise L. Levy, Brittany G. Craiglow, Erin F. Mathes, Anne W. Lucky, Lawrence F. Eichenfield, Latanya Benjamin, Philip Fleckman, Peter M. Elias, Amy S. Paller, Sherry A. Tanumihardjo, Andrea L. Zaenglein, Leslie P. Lawley, Joyce M.C. Teng, Leonard M. Milstone, John J. DiGiovanna, Dawn H. Siegel, Mary L. Williams, Richard A. Lewis, Lauren Thaxton, Sonali S. Patel, Keith A. Choate, Nicole S. Stefanko, Anna L. Bruckner
المصدر: Pediatric Dermatology
مصطلحات موضوعية: medicine.medical_specialty, Consensus, Adolescent, medicine.drug_class, Childbearing Potential, Dermatology, Systemic therapy, Bone health, systemic therapy, 030207 dermatology & venereal diseases, 03 medical and health sciences, Retinoids, 0302 clinical medicine, medicine, Humans, hyperlipidemia, Retinoid, bone health, Pediatric dermatology, Child, disorder of cornification, drug monitoring, business.industry, Ichthyosis, adverse drug effects, iPLEDGE, medicine.disease, safety monitoring, ectropion, contraception, quality of life, Hormonal contraception, Pedra Original Article, retinoid, 030220 oncology & carcinogenesis, Expert opinion, topical therapy, Pediatrics, Perinatology and Child Health, depression, business, Ichthyosis, Lamellar, Pedra Original Articles