المؤلفون: Panteliadis, Christos P.^Aff4

المساهمون: Panteliadis, Christos P., editor^Aff1, Benjamin, Ramsis, editor^Aff2, Hagel, Christian, editor^Aff3

المصدر: Neurocutaneous Disorders : A Clinical, Diagnostic and Therapeutic Approach. :383-388

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

URL الوصول: https://doaj.org/article/29840741a5934e578d055b4607a03bb7

المؤلفون: El-Darouti, Mohammad Ali^Aff3, Al-Ali, Faiza Mohamed^Aff4

المساهمون: El-Darouti, Mohammad Ali^Aff1, Al-Ali, Faiza Mohamed^Aff2

المصدر: Challenging Cases in Dermatology Volume 2 : Advanced Diagnoses and Management Tactics. :75-82

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

Relation: http://link.springer.com/article/10.1186/s12881-020-01094-y; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/9d202b3238844f71ad11b471453386fa

المؤلفون: Hettiarachchi, D.^Aff1, Panchal, Hetalkumar, Lai, P. S., Dissanayake, V. H. W.

المصدر: BMC Medical Genetics. 21(1)

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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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ffcdea4c3096f692ace471e53b5d1ef
https://doi.org/10.1186/s12881-020-01094-y

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

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b083859fc86ef5e4d2cf727dd8f42d85
https://pubmed.ncbi.nlm.nih.gov/30488480

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