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المؤلفون: Thuresson, Ann-Charlotte, Croft, Brittany, Hailer, Yasmin D., 1972, Liminga, Gunnar, Arvidsson, Carl-Göran, Harley, Vincent R, Stattin, Evalena
المصدر: Clinical Genetics. 99(2):325-329
مصطلحات موضوعية: FGF9, Multiple synostosis syndrome, SYNS, fusion of interphalangeal joints
وصف الملف: electronic
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2دورية أكاديمية
المؤلفون: Zhiming Fang, Zhongming Zhao, Valsamma Eapen, Raymond A. Clarke
المصدر: Genes, Vol 12, Iss 8, p 1290 (2021)
مصطلحات موضوعية: transcriptional interference, siRNA, lncRNA, multiple synostosis syndrome type 4 (SYNS4), sets of interacting transcription units (SITRUS), Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Raymond A. Clarke, Zhiming Fang, Dedee Murrell, Tabrez Sheriff, Valsamma Eapen
المصدر: Genes, Vol 12, Iss 9, p 1354 (2021)
مصطلحات موضوعية: multiple synostosis syndrome, vertebral fusion, GDF6, SYNS4, Klippel-Feil, progressive ossification, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Brittany Croft, Ann-Charlotte Thuresson, Vincent R. Harley, Carl‐Göran Arvidsson, Yasmin D. Hailer, Eva-Lena Stattin, Gunnar Liminga
المصدر: Clinical Genetics
مصطلحات موضوعية: Fibroblast Growth Factor 9, Male, 0301 basic medicine, Heterozygote, Multiple synostosis syndrome, Adolescent, fusion of interphalangeal joints, Mutation, Missense, Short Report, 030105 genetics & heredity, Biology, SYNS, FGF9, 03 medical and health sciences, Short Reports, Multiple synostoses syndrome, Genetics, Humans, Receptor, Fibroblast Growth Factor, Type 3, Missense mutation, Abnormalities, Multiple, Functional studies, Genetics (clinical), Medicinsk genetik, Radiography, stomatognathic diseases, Phenotype, 030104 developmental biology, Synostosis, multiple synostosis syndrome, Medical Genetics, Protein Binding
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02dcccb2c7c0a3bba689f885b0099a0b
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-428638 -
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المصدر: Genes
Genes, Vol 12, Iss 1354, p 1354 (2021)
Genes; Volume 12; Issue 9; Pages: 1354مصطلحات موضوعية: Larynx, Proband, Klippel-Feil, Hearing loss, pisiform, QH426-470, Article, Vertebral fusion, progressive ossification, medicine, Genetics, Genetics (clinical), Ossification, business.industry, GDF6, SYNS4, Anatomy, Synostosis, medicine.disease, medicine.anatomical_structure, multiple synostosis syndrome, Otosclerosis, vertebral fusion, medicine.symptom, business, skeletal morphology
وصف الملف: application/pdf
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المؤلفون: Raymond A. Clarke, Zhongming Zhao, Zhiming Fang, Valsamma Eapen
المصدر: Genes
Genes, Vol 12, Iss 1290, p 1290 (2021)
Genes; Volume 12; Issue 8; Pages: 1290مصطلحات موضوعية: Small interfering RNA, Transcription, Genetic, transcriptional interference, siRNA, lncRNA, multiple synostosis syndrome type 4 (SYNS4), sets of interacting transcription units (SITRUS), QH426-470, Biology, Growth Differentiation Factor 6, Article, RNA interference, Transcription (biology), Genetics, Humans, RNA, Antisense, Gene Silencing, RNA, Messenger, RNA, Small Interfering, Enhancer, Gene, Genetics (clinical), RNA, Double-Stranded, RNA, Gene targeting, Proteins, Cell biology, Enhancer Elements, Genetic, Phenotype, Gene Expression Regulation, Synostosis, Gene Targeting, RNA Interference, Overlapping gene
وصف الملف: application/pdf
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المؤلفون: Vincent R. Harley, Gunnar Liminga, Eva-Lena Stattin, Yasmin D. Hailer, Ann-Charlotte Thuresson, Brittany Croft, Carl‐Göran Arvidsson
مصطلحات موضوعية: medicine.medical_specialty, Multiple synostosis syndrome, business.industry, medicine, business, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8c1000e57b9b3d6842de490befe6fad5
https://doi.org/10.1111/cge.13880/v2/response1 -
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المؤلفون: Nathalie Houssin
مصطلحات موضوعية: medicine.medical_specialty, Multiple synostosis syndrome, business.industry, Medicine, business, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f92d5c6e452dcd28be11a553525989a6
https://doi.org/10.1111/cge.13880/v1/review2 -
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المؤلفون: M Irving
مصطلحات موضوعية: medicine.medical_specialty, Multiple synostosis syndrome, business.industry, Medicine, business, Dermatology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::920c796088c7061d29a18eaa4836eb33
https://doi.org/10.1111/cge.13880/v1/review1 -
10دورية أكاديمية
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