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1دورية أكاديمية
المؤلفون: van Bon, Bregje, Brooks, Alice, Guan, Qiaoning, Klee, Eric, Marcelis, Carlo, Rosado, Joel, Schimmenti, Lisa, Shikany, Amy, Terhal, Paulien, Nicole Weaver, Kathryn, Wessels, Marja, van Wieringen, Hester, Hurst, Anna, Gooch, Catherine, Steindl, Katharina, Joset, Pascal, Rauch, Anita, Tartaglia, Marco, Niceta, Marcello, Elgersma, Ype, Demirdas, Serwet, van Woerden, Geeske, Senden, Richelle, de Konink, Charlotte, Trezza, Rossella, Baban, Anwar, Bassetti, Jennifer, van Bever, Yolande, Bird, Lynne
المصدر: Human Mutation: Variation, Informatics and Disease. 43(10)
مصطلحات موضوعية: MAP3K7, Noonan syndrome, cardiospondylocarpofacial syndrome, frontometaphyseal dysplasia type 2, Abnormalities, Multiple, Genotype, Hearing Loss, Bilateral, Humans, Mitral Valve Insufficiency, Mutation, Noonan Syndrome, Osteosclerosis, Phenotype
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2rc8d5hc
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2دورية أكاديمية
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3دورية أكاديمية
المؤلفون: Jaewon Kim, Dong-Woo Lee, Dae-Hyun Jang
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: frontometaphyseal dysplasia 1, otopalatodigital spectrum disorder, syringomyelia, Chiari I malformation, FLNA gene mutation, pansynostosis, Pediatrics, RJ1-570
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: Duchenne muscular dystrophy, frontometaphyseal dysplasia 1, X-linked genetic diseases, FLNA gene mutation, genetic disease, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
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6
المصدر: American Journal of Medical Genetics Part A. 185:1550-1553
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genetic disorder, Physical examination, Scoliosis, medicine.disease, Spinal cord, Frontometaphyseal dysplasia, Severe scoliosis, medicine.anatomical_structure, Clinical heterogeneity, Genetics, Medicine, Presentation (obstetrics), business, Genetics (clinical)
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7
المؤلفون: Stephen P. Robertson, Manouri P Senanayake, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Ruwangi Dissanayake, Jerard Fernando
المصدر: American Journal of Medical Genetics Part A. 185:1317-1320
مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Hyperostosis, Pathology, medicine.medical_specialty, business.industry, 030105 genetics & heredity, medicine.disease, Filamin, Frontometaphyseal dysplasia, 03 medical and health sciences, Exon, 030104 developmental biology, Genetics, Medicine, FLNA, Sri lanka, business, Kyphoscoliosis, Genetics (clinical)
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8دورية أكاديمية
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9
المؤلفون: Yoko Narumi-Kishimoto, Fumio Takada, Kenichiro Hata, Ohsuke Migita, Rika Kawaguchi-Kawata, Asuka Hori
المصدر: Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)مصطلحات موضوعية: Pathology, medicine.medical_specialty, Genetic testing, Disease genetics, business.industry, QH426-470, MAP3K7, Biochemistry, Frontometaphyseal dysplasia, Life, stomatognathic system, QH501-531, Mutation (genetic algorithm), Data Report, cardiovascular system, Genetics, Medicine, Missense mutation, cardiovascular diseases, Skeletal abnormalities, business, Molecular Biology, Multiple congenital malformations, circulatory and respiratory physiology
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10
المؤلفون: Dong-Woo Lee, Dae-Hyun Jang, Jaewon Kim
المصدر: Frontiers in Pediatrics
Frontiers in Pediatrics, Vol 9 (2021)مصطلحات موضوعية: 0301 basic medicine, Hyperostosis, Craniofacial abnormality, Case Report, Pediatrics, RJ1-570, Craniosynostosis, 03 medical and health sciences, 0302 clinical medicine, FLNA gene mutation, Medicine, FLNA, Hypertelorism, business.industry, frontometaphyseal dysplasia 1, Anatomy, medicine.disease, syringomyelia, Chiari I malformation, pansynostosis, otopalatodigital spectrum disorder, 030104 developmental biology, Palpebral fissure, Dysplasia, Pediatrics, Perinatology and Child Health, medicine.symptom, business, 030217 neurology & neurosurgery, Syringomyelia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cc8b3fe7b3c232b0b662dd33b90108d
https://doi.org/10.3389/fped.2021.574402