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1كتاب إلكتروني
المؤلفون: Panteliadis, Christos P.Aff4
المساهمون: Panteliadis, Christos P., editorAff1, Benjamin, Ramsis, editorAff2, Hagel, Christian, editorAff3
المصدر: Neurocutaneous Disorders : A Clinical, Diagnostic and Therapeutic Approach. :383-388
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2دورية أكاديمية
المؤلفون: Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 3, Pp n/a-n/a (2023)
مصطلحات موضوعية: CHILD syndrome, chromosomal microarray analysis, NSDHL gene, recurrent spontaneous abortion, whole‐exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3كتاب إلكتروني
المؤلفون: El-Darouti, Mohammad AliAff3, Al-Ali, Faiza MohamedAff4
المساهمون: El-Darouti, Mohammad AliAff1, Al-Ali, Faiza MohamedAff2
المصدر: Challenging Cases in Dermatology Volume 2 : Advanced Diagnoses and Management Tactics. :75-82
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4دورية أكاديمية
المؤلفون: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
مصطلحات موضوعية: CHILD syndrome, X-linked dominant, NSDHL gene, Novel variant, Syndactyly, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Hettiarachchi, D.Aff1, Panchal, Hetalkumar, Lai, P. S., Dissanayake, V. H. W.
المصدر: BMC Medical Genetics. 21(1)
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6دورية أكاديمية
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المؤلفون: P. S. Lai, Hetalkumar Panchal, D. Hettiarachchi, V. H. W. Dissanayake
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)مصطلحات موضوعية: 0301 basic medicine, Proband, lcsh:Internal medicine, medicine.medical_specialty, 3-Hydroxysteroid Dehydrogenases, lcsh:QH426-470, Limb Deformities, Congenital, Mutation, Missense, Erythroderma, Case Report, 030105 genetics & heredity, Protein Structure, Secondary, 03 medical and health sciences, Protein Domains, Catalytic Domain, Internal medicine, Genetics, medicine, Animals, Humans, Missense mutation, Abnormalities, Multiple, Genetic Predisposition to Disease, Syndactyly, lcsh:RC31-1245, Conserved Sequence, Genetic Association Studies, Genetics (clinical), Exome sequencing, X-linked dominant, business.industry, CHILD syndrome, Genodermatosis, Infant, Genetic Diseases, X-Linked, Ichthyosiform Erythroderma, Congenital, medicine.disease, Novel variant, Hypoplasia, lcsh:Genetics, 030104 developmental biology, Endocrinology, Mutation, Female, NSDHL gene, business
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المؤلفون: Faiza Mohamed Al-Ali, Mohammad Ali El-Darouti
المصدر: Challenging Cases in Dermatology Volume 2 ISBN: 9783030218546
مصطلحات موضوعية: Ichthyosiform erythroderma, medicine.medical_specialty, Erythema, NSDHL gene, Limb defects, business.industry, Feature (computer vision), Medicine, Dystrophy, medicine.symptom, business, Dermatology, X-linked dominant
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::109985d157565a7d8b11be9c18ab4a11
https://doi.org/10.1007/978-3-030-21855-3_11 -
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المؤلفون: Y. Zhang, E. Ormerod, M G S Dunnill, L. Bownass, S. Smithson
المصدر: Clinical and experimental dermatology. 44(4)
مصطلحات موضوعية: Adult, medicine.medical_specialty, 3-Hydroxysteroid Dehydrogenases, Limb Deformities, Congenital, Mutation, Missense, Dermatology, Nevus, Sebaceous of Jadassohn, Severity of Illness Index, Ichthyosiform erythroderma, NSDHL gene, Severity of illness, Medicine, Missense mutation, Nevus, Humans, Abnormalities, Multiple, Diagnostic Errors, business.industry, Genetic Diseases, X-Linked, Ichthyosiform Erythroderma, Congenital, medicine.disease, Phenotype, Mutation (genetic algorithm), Female, Presentation (obstetrics), business
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10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.