المؤلفون: Nareh V. Marukian, Keith A. Choate

المصدر: F1000Research, Vol 5 (2016)

مصطلحات موضوعية: Acquired & Inherited Bullous Disorders, Cell Adhesion, Dermatologic Pathology, Medical Genetics, Musculoskeletal Pharmacology, Pediatric Skin Diseases (incl. Genetic Diseases), Psoriasis & Other Inflammatory Diseases, Medicine, Science

وصف الملف: electronic resource

Relation: http://f1000research.com/articles/5-1497/v1; https://doaj.org/toc/2046-1402

URL الوصول: https://doaj.org/article/f46d4dd3d0ea47e890b359d0fdd81a59

المؤلفون: Amy S. Paller, Keith A. Choate, Jing Zhou, Jouni Uitto, Rong Hua Hu, Deniz A. Akkaya, Leonard M. Milstone, Susan J. Bayliss, Leila Youssefian, Brittany G. Craiglow, Hassan Vahidnezhad, Nareh V. Marukian, Hande Kaymakçalan, Lynn M. Boyden, Amy Theos

المساهمون: Akkaya, Ayşe Deniz, Marukian, Nareh V., Hu, Rong-Hua, Craiglow, Brittany G., Milstone, Leonard M., Zhou, Jing, Theos, Amy, Kaymakcalan, Hande, Uitto, Jouni J., Vahidnezhad, Hassan, Youssefian, Leila, Bayliss, Susan J., Paller, Amy S., Boyden, Lynn M., Choate, Keith A., Koç University Hospital, Department of Dermatology

المصدر: JAMA Dermatology

مصطلحات موضوعية: 0301 basic medicine, Proband, Adult, Male, Adolescent, Genotype, Genetic counseling, Bathing suit ichthyosis, Mutation, Missense, Dermatology, Compound heterozygosity, Body Temperature, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, INDEL Mutation, Congenital ichthyosis, Medicine, Humans, Child, Recessive congenital ichthyosis, Transglutaminase 1 mutations, Healing collodion baby, Lamellar ichthyosis, Keratinocyte transglutaminase, TGM1 mutation, Gene, Phenotype, Erythroderma, Deficiency, Original Investigation, Genetics, Academic Medical Centers, Transglutaminases, business.industry, Ichthyosis, Infant, medicine.disease, 030104 developmental biology, Child, Preschool, Female, business, human activities, Ichthyosis, Lamellar, Congenital disorder

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d314cad2dd9511a6adee1601f317d6
https://europepmc.org/articles/PMC5817618/

المؤلفون: Brittany G. Craiglow, Yanhong Deng, Wisblaude Thermidor, Geliang Gan, Leonard M. Milstone, Keith A. Choate, Nareh V. Marukian, Ivy Ren

المصدر: The Journal of investigative dermatology. 137(9)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Scale (ratio), Erythema, Intraclass correlation, Dermatology, Biochemistry, Severity of Illness Index, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Severity of illness, Photography, Medicine, Humans, Molecular Biology, Reliability (statistics), Observer Variation, Reproducibility, business.industry, Ichthyosis, Biopsy, Needle, Cell Biology, Middle Aged, medicine.disease, Immunohistochemistry, Surgery, Inter-rater reliability, 030104 developmental biology, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa5bef7e3c97c2b1c963180cb633522
https://pubmed.ncbi.nlm.nih.gov/28596001

المؤلفون: Keith A. Choate, Nareh V. Marukian

المصدر: F1000Research

مصطلحات موضوعية: 0301 basic medicine, keratinization, Erythroderma, Clinical manifestation, Review, Dermatologic Pathology, Bioinformatics, Acquired & Inherited Bullous Disorders, General Biochemistry, Genetics and Molecular Biology, Pathogenesis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, medicine, Cell Adhesion, Pediatric Skin Diseases (incl. Genetic Diseases), General Pharmacology, Toxicology and Pharmaceutics, Genetics, General Immunology and Microbiology, Musculoskeletal Pharmacology, business.industry, Ichthyosis, pathogenesis, Consensus conference, General Medicine, Articles, medicine.disease, Phenotype, Psoriasis & Other Inflammatory Diseases, 030104 developmental biology, Palmoplantar keratoderma, Identification (biology), ichthyosis, business, Medical Genetics, hyperproliferation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::debbe796eb92a592a7d8ad0428994b3e
http://europepmc.org/articles/PMC4926734

المؤلفون: Brittany G. Craiglow, Theodore Zaki, Nareh V. Marukian, B. Olamiju, Ronghua Hu, Ivy Ren, J. Zhou, Y. Deng, Keith A. Choate, L. Li

المصدر: Journal of Investigative Dermatology. 138:S64

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Quality of life (healthcare), business.industry, Ichthyosis, medicine, Cell Biology, Dermatology, business, medicine.disease, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8a5ca63993f6815b823897cca2edfd32
https://doi.org/10.1016/j.jid.2018.03.385

المؤلفون: Leonard M. Milstone, Keith A. Choate, Theodore Zaki, Nareh V. Marukian, Ronghua Hu, Ivy Ren, J. Zhou, B. Olamiju, Y. Deng, L. Li

المصدر: Journal of Investigative Dermatology. 138:S64

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Quality of life (healthcare), business.industry, Ichthyosis, medicine, Cell Biology, Dermatology, business, medicine.disease, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f7b74d7f12783da9de4cd4e0d32f9a4a
https://doi.org/10.1016/j.jid.2018.03.386

المؤلفون: Keith A. Choate, Susan J. Bayliss, Amy S. Paller, J. Zhou, Nareh V. Marukian, Hande Kaymakçalan, Lynn M. Boyden, Ronghua Hu, Amy Theos

المصدر: Journal of Investigative Dermatology. 136:S65

مصطلحات موضوعية: Pathogenesis, medicine.medical_specialty, business.industry, Bathing suit ichthyosis, Medicine, Cell Biology, Dermatology, business, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7a17db84ed84ec5ebaf10472eb6a0a56
https://doi.org/10.1016/j.jid.2016.02.399