يعرض 1 - 10 نتائج من 195 نتيجة بحث عن '"Melnick-Needles"', وقت الاستعلام: 0.97s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick–Needles syndrome (MNS) in a family with recurrent miscarriage

    المؤلفون: Xin Luo, Zailin Yang, Jing Zeng, Jing Chen, Ningxuan Chen, Xiaoyan Jiang, Qinlv Wei, Ping Yi, Jing Xu

    المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 5, Pp n/a-n/a (2023)

    مصطلحات موضوعية: FLNA, Melnick–Needles syndrome, midline structure dysplasia, recurrent miscarriage, Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2324-9269

    URL الوصول: https://doaj.org/article/9fc98b08bef9420cb732a30a34d9a7a7

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  2. 2
    دورية أكاديمية
    Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature

    المؤلفون: Maria Pia Riccio, Giuseppe D’Andrea, Emilia Sarnataro, Maria Marino, Carmela Bravaccio, Umberto Albert

    المصدر: Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)

    مصطلحات موضوعية: Bipolar disorder, Melnick–Needles syndrome, Periventricular nodular heterotopias, Case report, Medicine

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/1752-1947

    URL الوصول: https://doaj.org/article/7f4f8657cdda43b597d9a312d509fe11

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  3. 3
    دورية أكاديمية
    Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature

    المؤلفون: Riccio, Maria PiaAff1, D’Andrea, Giuseppe, Sarnataro, Emilia, Marino, Maria, Bravaccio, Carmela, Albert, Umberto

    المصدر: Journal of Medical Case Reports. 15(1)

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  4. 4
    دورية أكاديمية
    A family of Melnick-Needles syndrome: a case report

    المؤلفون: Chi Hoon Oh, Chang Ho Lee, So Young Kim, So-Young Lee, Hak Hoon Jun, Soonchul Lee

    المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-6 (2020)

    مصطلحات موضوعية: Melnick-Needles syndrome, Osteochondrodysplasia, Family, FLNA, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    Relation: http://link.springer.com/article/10.1186/s12887-020-02288-2; https://doaj.org/toc/1471-2431

    URL الوصول: https://doaj.org/article/1ffde2cb2cfe48588f70e47f8aeabfef

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  5. 5
    دورية أكاديمية
    A family of Melnick-Needles syndrome: a case report

    المؤلفون: Oh, Chi Hoon, Lee, Chang Ho, Kim, So Young, Lee, So-Young, Jun, Hak Hoon, Lee, SoonchulAff1

    المصدر: BMC Pediatrics. 20(1)

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  6. 6
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

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  7. 7
    دورية أكاديمية

    لا يتم عرض هذه النتيجة على الضيوف.

    View this record from ISI Web of Science
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  8. 8
    Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

    المصدر: American Journal of Medical Genetics Part A. 179(8):1652-1664

    مصطلحات موضوعية: podosomes, MMP14, WINCHESTER-SYNDROME, SKELETAL DEFORMITIES, HOMOZYGOUS MMP2 MUTATION, ECM remodeling, PROMMP-2 ACTIVATION, CELL-SURFACE, EXTRACELLULAR-MATRIX, TER HAAR SYNDROME, ACID MUCOPOLYSACCHARIDOSIS, MMP2, SH3PXD2B, MATRIX-METALLOPROTEINASE MT1-MMP, MELNICK-NEEDLES SYNDROME

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=od________83::fd918e30c023170b2d3cdbb4f32575b7
    https://doi.org/10.1002/ajmg.a.61264

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  9. 9
    Bipolar disorder with Melnick–Needles syndrome and periventricular nodular heterotopia: two case reports and a review of the literature

    المؤلفون: Carmela Bravaccio, Emilia Sarnataro, Maria Pia Riccio, Maria Marino, Umberto Albert, Giuseppe D’Andrea

    المساهمون: Riccio, M. P., D'Andrea, G., Sarnataro, E., Marino, M., Bravaccio, C., Albert, U., Riccio, Maria Pia, D’Andrea, Giuseppe, Sarnataro, Emilia, Marino, Maria, Bravaccio, Carmela, Albert, Umberto

    المصدر: Journal of Medical Case Reports
    Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-5 (2021)

    مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Bipolar Disorder, Adolescent, Melnick–Needles syndrome, Case Report, Osteochondrodysplasias, Lateral ventricles, Periventricular Nodular Heterotopia, Case report, medicine, Rare syndrome, Humans, Osteochondrodysplasia, Bipolar disorder, Brain Diseases, Psychiatric Disease, business.industry, Brain Disease, Brain, General Medicine, medicine.disease, Periventricular nodular heterotopia, Young age, Medicine, Periventricular nodular heterotopias, Female, Abnormality, business, Human

    وصف الملف: ELETTRONICO

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1dbf9d3bba5162dccbd85d293a57f2
    http://europepmc.org/articles/PMC8504088

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  10. 10
    The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome

    المؤلفون: Julian L. Goggi, Thomas J. Carney, Nicole C. Syder, Jason Taslim, Ivo J. H. M. de Vos, Sheena Li Ming Ong, Arnette Shi Wei Wong, Maurice A.M. van Steensel

    المساهمون: Lee Kong Chian School of Medicine (LKCMedicine), Skin Research Institute of Singapore, A*STAR, Faculteit Medische Wetenschappen/UMCG

    المصدر: Biology Open
    article-version (VoR) Version of Record
    Biology Open, Vol 9, Iss 12 (2020)
    Open Biology, 9(12):054270. COMPANY OF BIOLOGISTS LTD

    مصطلحات موضوعية: Podosome, Developmental Disabilities, Extracellular matrix, Pathogenesis, Craniofacial Abnormalities, Frank–ter Haar syndrome, Fibrosis, Drosophila Proteins, Biology (General), Zebrafish, SH3PXD2B, MELNICK-NEEDLES SYNDROME, Gene Editing, 0303 health sciences, biology, INVADOPODIA, 030305 genetics & heredity, Dermis, Phenotype, Immunohistochemistry, Cell biology, Extracellular Matrix, ECM remodelling, Invadopodia, Collagen, ARTHRITIS, General Agricultural and Biological Sciences, Research Article, Heart Defects, Congenital, QH301-705.5, Science, Osteochondrodysplasias, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, FTHS, medicine, Animals, Medicine [Science], 030304 developmental biology, Adaptor Proteins, Signal Transducing, IDENTIFICATION, MUTATIONS, biology.organism_classification, medicine.disease, ZINC-FINGER TARGETER, Disease Models, Animal, Mutation, ZIFIT

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c116903393a2e5b53ff9b907a1968a69
    http://europepmc.org/articles/PMC7790187

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