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1
المؤلفون: C. Hogan, Patricia J.C. Dopping-Hepenstal, Lu Liu, Andrew P. South, Charles A. Mein, Jemima E. Mellerio, Arti Nanda, Rita M. Cabral, John A. McGrath, Raul A. Asial, Beatriz C. Winik, Richard Dobson, Patricia A. Baselaga, David P. Kelsell, María del Carmen Boente
المصدر: Journal of Investigative Dermatology. 130:1543-1550
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, DNA, Complementary, Beta-catenin, Biopsy, Nonsense mutation, Cardiomyopathy, Plakoglobin, Dermatology, Biology, Polymorphism, Single Nucleotide, Biochemistry, Naxos disease, medicine, Humans, RNA, Messenger, Child, Molecular Biology, Skin, Splice site mutation, Cadherin, Homozygote, Infant, Skin Diseases, Genetic, Heart, Cell Biology, Nucleic acid amplification technique, medicine.disease, Molecular biology, Phenotype, Desmoplakins, Codon, Nonsense, Child, Preschool, biology.protein, Female, RNA Splice Sites, gamma Catenin, Cardiomyopathies, Nucleic Acid Amplification Techniques
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2
المؤلفون: John A. McGrath, María del Carmen Boente, Beatriz C. Winik, Andrew P. South, Raul A. Asial
المصدر: British Journal of Dermatology. 160:868-874
مصطلحات موضوعية: Keratoderma, Palmoplantar, Diffuse, Male, Ectodermal dysplasia, Pathology, medicine.medical_specialty, Genotype, Plakoglobin, Dermatology, Naxos disease, Ectodermal Dysplasia, medicine, Humans, Keratoderma, Skin, integumentary system, biology, business.industry, Desmoplakin, Acantholysis, Infant, Desmosomes, medicine.disease, Microscopy, Electron, Palmoplantar keratoderma, Desmoglein 1, Child, Preschool, biology.protein, Hair Diseases, business
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3
المؤلفون: M. Del C. Boente, Norma B. Primc, Raul A. Asial, M. Del V. Frontini
المصدر: Annales de Dermatologie et de Vénéréologie. 131:805-809
مصطلحات موضوعية: Dermatology
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4
المؤلفون: Raul A. Asial, Hilda Bibas-Bonet, Ricardo Fauze, Ana M. Coronel, Marı A C Boente
المصدر: Pediatric Neurology. 24:228-231
مصطلحات موضوعية: Male, medicine.medical_specialty, Ichthyosis, X-Linked, Photophobia, Corpus callosum hypoplasia, Vascularizing keratitis, Developmental Neuroscience, Intellectual Disability, medicine, Humans, Epilepsy, integumentary system, medicine.diagnostic_test, Ichthyosis, Brain, Alopecia, Electroencephalography, Magnetic resonance imaging, Syndrome, medicine.disease, Magnetic Resonance Imaging, Dermatology, Temporal Lobe, Hypoplasia, Surgery, Inguinal hernia, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Occipital Lobe, Neurology (clinical), Agenesis of Corpus Callosum, medicine.symptom, Psychology, Congenital Alopecia
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5
المؤلفون: María del Carmen Boente, Graciela Nadra, Raul A. Asial, Rudolf Happle
المصدر: Dermatology. 219:155-157
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Systemic disease, business.industry, Overlap syndrome, Dermatology, Postzygotic mutation, Dermatomyositis, medicine.disease, Connective tissue disease, Loss of heterozygosity, Calcinosis, medicine, business, Juvenile dermatomyositis
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6
المؤلفون: María del Carmen Boente, Raul A. Asial, Beatriz C. Winik
المصدر: The American Journal of Dermatopathology. 20:373-378
مصطلحات موضوعية: Male, Hyalin, Pathology, medicine.medical_specialty, Skin Neoplasms, Infantile systemic hyalinosis, Fibroma, Dermatology, Biology, Pathology and Forensic Medicine, symbols.namesake, medicine, Humans, Fibromatosis, Gingival, Skin, Hyaline substance, Endoplasmic reticulum, Vesicle, Fibromatosis, Infant, General Medicine, Anatomy, Golgi apparatus, medicine.disease, Microscopy, Electron, Ultrastructure, symbols, Juvenile hyaline fibromatosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eaf638b8793088730c4447d09d823950
https://doi.org/10.1097/00000372-199808000-00009 -
7
المؤلفون: Norma B. Primc, María del Carmen Boente, Rudolf Happle, Raul A. Asial
المصدر: Journal of Dermatological Case Reports. 7
مصطلحات موضوعية: Hypertrichosis, medicine.medical_specialty, Pathology, Neurocutaneous Syndromes, integumentary system, medicine.diagnostic_test, business.industry, Macrocephaly, Dermatology, medicine.disease, Article, Trichoscopy, medicine.anatomical_structure, Scalp, Koilonychia, Biopsy, medicine, Differential diagnosis, medicine.symptom, skin and connective tissue diseases, business
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8
المؤلفون: Raul A. Asial, María del Carmen Boente, Beatriz C. Winik
المصدر: Journal of cutaneous pathology. 34(2)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Histology, Adolescent, Adipose tissue, Connective tissue, Dermatology, Biology, Pathology and Forensic Medicine, Extracellular matrix, Immunoenzyme Techniques, Dermis, Microscopy, Electron, Transmission, medicine, Adipocytes, Humans, Child, Mesenchymal stem cell, Anatomy, Fibroblasts, Periodic Acid-Schiff Reaction, medicine.disease, Elastic Tissue, Focal dermal hypoplasia, Extracellular Matrix, Focal Dermal Hypoplasia, medicine.anatomical_structure, Connective Tissue, Ultrastructure, Female, Collagen, Reticular Dermis, Biomarkers
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9
المصدر: Pediatric dermatology. 20(6)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Hyperkeratosis, Photodermatosis, Loss of Heterozygosity, Dermatology, Linear porokeratosis, Disseminated superficial actinic porokeratosis, medicine.disease, Dyskeratosis, Malignant transformation, Porokeratosis, Loss of heterozygosity, Diagnosis, Differential, Child, Preschool, Pediatrics, Perinatology and Child Health, Medicine, Humans, Female, Genetic Predisposition to Disease, Family history, business
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10
المؤلفون: Maria del V. Frontini, Maria I. Acosta, Raul A. Asial, María del Carmen Boente, Silvia Barrionuevo, César Saleme
المصدر: Pediatric dermatology. 12(3)
مصطلحات موضوعية: Male, Ectodermal dysplasia, Pathology, medicine.medical_specialty, business.industry, Placenta, Infant, Newborn, Dermatology, Aplasia, Anatomy, medicine.disease, Trunk, Aplasia cutis congenita, Lesion, medicine.anatomical_structure, Ectodermal Dysplasia, Pediatrics, Perinatology and Child Health, medicine, Humans, medicine.symptom, Fetus papyraceus, Family history, business