المؤلفون: Francis L. Munier, Marianne Rohrbach, Leon Au, Louise F. Porter, Sarah F. Smithson, Forbes D C Manson, Helen L Spencer, Jill Clayton-Smith, Mohnish Suri, Graeme C.M. Black, Emma Burkitt Wright

المساهمون: University of Zurich, Black, Graeme C M

المصدر: Orphanet Journal of Rare Diseases, vol. 8, pp. 68
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Joint Instability, 2716 Genetics (clinical), medicine.medical_specialty, Adolescent, genetic structures, 610 Medicine & health, 03 medical and health sciences, 0302 clinical medicine, Tympanic Membranes, Ocular rupture, Corneal rupture, medicine, Humans, 2736 Pharmacology (medical), Genetics(clinical), Pharmacology (medical), Blue sclera, PRDM5, Eye Abnormalities, Auditory function, Genetics (clinical), 030304 developmental biology, Medicine(all), Brittle cornea syndrome, 0303 health sciences, business.industry, Research, DNA-Binding Proteins/genetics, Ehlers-Danlos Syndrome/diagnosis, Ehlers-Danlos Syndrome/genetics, Female, Mutation, Transcription Factors/genetics, Effective management, General Medicine, medicine.disease, Dermatology, eye diseases, Human genetics, 3. Good health, DNA-Binding Proteins, 10036 Medical Clinic, Ehlers–Danlos syndrome, Skin Abnormalities, 030221 ophthalmology & optometry, Etiology, ZNF469, Ehlers-Danlos Syndrome, sense organs, business, Transcription Factors

وصف الملف: 1750-1172-8-68.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65400cea90ed8ca71332eca6e1384d8cTest
https://doi.org/10.1186/1750-1172-8-68Test

المؤلفون: Carlo Marcelis, Gul Serdaroglu, Anthony Vandersteen, Matthias R. Baumgartner, Esra Ataman, Maya Chopra, Uluç Yiş, Cecilia Giunta, Marius E. Kraenzlin, Ariana Kariminejad, Kristi J. Jones, Sixto Garcia, Marianne Rohrbach

المساهمون: Ege Üniversitesi, University of Zurich, Rohrbach, M

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 46 (2011)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 6, pp. 46-46
Orphanet Journal of Rare Diseases, 6, 46-46

مصطلحات موضوعية: Male, Connective Tissue Disorder, Muscle Hypotonia, Biopsy, Developmental Disabilities, DNA Mutational Analysis, lcsh:Medicine, chemistry.chemical_compound, 2736 Pharmacology (medical), Genetics(clinical), Pharmacology (medical), Amino Acids, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Kyphoscoliosis, Cells, Cultured, Genetics (clinical), Skin, Medicine(all), Pyridinoline, integumentary system, biology, Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase, General Medicine, Hypotonia, Phenotype, Scoliosis, 10076 Center for Integrative Human Physiology, Child, Preschool, Female, medicine.symptom, Adult, Joint hypermobility, 2716 Genetics (clinical), medicine.medical_specialty, Adolescent, Genotype, Lysyl hydroxylase, 610 Medicine & health, macromolecular substances, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, medicine, Humans, Kyphosis, Research, lcsh:R, Infant, Fibroblasts, medicine.disease, eye diseases, Endocrinology, chemistry, 10036 Medical Clinic, Ehlers–Danlos syndrome, biology.protein, 570 Life sciences, Ehlers-Danlos Syndrome

وصف الملف: Phenotypic_variability_of_the_kyphoscoliotic_type.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af691d3f07b70536c7f9e4c7944bb830Test
https://doi.org/10.1186/1750-1172-6-46Test