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1دورية أكاديمية
المؤلفون: Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer
المصدر: Genes; Volume 13; Issue 10; Pages: 1761
مصطلحات موضوعية: Kabuki syndrome, Niikawa–Kuroki syndrome, transcription, KMT2D, KDM6A
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13101761Test
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2دورية أكاديمية
المؤلفون: Lim, Chaemoon, Jung, Sung-Taek, Shin, Chang Ho, Park, Moon Seok, Yoo, Won Joon, Chung, Chin Youb, Choi, In Ho, Ko, Jung Min, Cho, Tae-Joon
المساهمون: Park, Moon Seok, Yoo, Won Joon, Chung, Chin Youb, Choi, In Ho, Ko, Jung Min, Cho, Tae-Joon
مصطلحات موضوعية: NIIKAWA-KUROKI SYNDROME, PHENOTYPE, OSTEOTOMY, EARS, Kabuki syndrome, Hip dislocation
العلاقة: Clinics in Orthopedic Surgery, Vol.11 No.4, pp.474-481; https://hdl.handle.net/10371/191906Test; 000497985300015; 2-s2.0-85076170837; 91491; ART002527570
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3دورية أكاديمية
المصدر: Schott , D A , Stumpel , C T R M & Klaassens , M 2019 , ' Hypermobility in individuals with Kabuki syndrome : The effect of growth hormone treatment ' , American Journal of Medical Genetics Part A , vol. 179 , no. 2 , pp. 219-223 . https://doi.org/10.1002/ajmg.a.60696Test
مصطلحات موضوعية: growth hormone treatment, joint hypermobility, Kabuki syndrome, KDM6A, KMT2D, NIIKAWA-KUROKI SYNDROME, CHILDREN, EARS, MLL2
الإتاحة: https://doi.org/10.1002/ajmg.a.60696Test
https://cris.maastrichtuniversity.nl/en/publications/f42c6434-ba67-4861-ab2e-25b3fdb75475Test -
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المؤلفون: Constance T. R. M. Stumpel, Merel Klaassens, Dina A. Schott
المساهمون: Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9)
المصدر: American Journal of Medical Genetics. Part a
American Journal of Medical Genetics Part A, 179(2), 219-223. Wileyمصطلحات موضوعية: Male, 0301 basic medicine, CHILDREN, 030105 genetics & heredity, Severity of Illness Index, Cohort Studies, joint hypermobility, Databases, Genetic, KDM6A, Prospective Studies, Child, Prospective cohort study, Genetics (clinical), Histone Demethylases, education.field_of_study, Incidence (epidemiology), KMT2D, growth hormone treatment, Neoplasm Proteins, DNA-Binding Proteins, Growth hormone treatment, Vestibular Diseases, Child, Preschool, Cohort, MLL2, Female, Original Article, Joint Instability, Joint hypermobility, medicine.medical_specialty, Adolescent, Population, NIIKAWA-KUROKI SYNDROME, 03 medical and health sciences, EARS, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Congenital Malformation Syndrome, education, Kabuki syndrome, business.industry, Original Articles, medicine.disease, Hematologic Diseases, 030104 developmental biology, Face, Growth Hormone, Mutation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::132e833267905dd9839ff8c24a7c1d74Test
https://cris.maastrichtuniversity.nl/en/publications/f42c6434-ba67-4861-ab2e-25b3fdb75475Test -
5دورية أكاديمية
المؤلفون: Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-González, AM, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galán, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, HG, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A
المصدر: urn:ISSN:0009-9163 ; urn:ISSN:1399-0004 ; Clinical Genetics, 84, 6, 539-545
مصطلحات موضوعية: Rare Diseases, Genetics, Human Genome, Clinical Research, 2 Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, DNA-Binding Proteins, Face, Facies, Female, Genetic Association Studies, Hematologic Diseases, Humans, Male, Mutation, Neoplasm Proteins, Phenotype, Sequence Analysis, DNA, Vestibular Diseases, Kabuki syndrome, MLL2, Niikawa-Kuroki syndrome, genotype-phenotype correlation, anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences
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6دورية أكاديمية
المصدر: Philippine Journal of Otolaryngology Head and Neck Surgery, Vol 26, Iss 1 (2011)
مصطلحات موضوعية: Kabuki syndrome, Niikawa-Kuroki syndrome, hearing loss, multiple anomalies, Otorhinolaryngology, RF1-547
وصف الملف: electronic resource
العلاقة: https://pjohns.pso-hns.org/index.php/pjohns/article/view/597Test; https://doaj.org/toc/1908-4889Test; https://doaj.org/toc/2094-1501Test
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المؤلفون: Robert Śmigiel, Michał Błoch
المصدر: Pediatria Polska. 92:758-763
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pediatrics, Luxating patella, Rehabilitation, business.industry, medicine.medical_treatment, Niikawa-Kuroki Syndrome, 030105 genetics & heredity, medicine.disease, Medical care, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Orthopedic surgery, Medicine, business, Kabuki syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2e1c3cc8c4c5047c5c3a4cb6a9000c47Test
https://doi.org/10.1016/j.pepo.2017.04.001Test -
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المؤلفون: Topa, Alexandra, 1978, Samuelsson, Lena, 1962, Lovmar, Lovisa, Stenman, Göran, 1953, Kölby, Lars, 1963
المصدر: American Journal of Medical Genetics Part A. 173(8):2219-2225
مصطلحات موضوعية: Medical Biotechnology, Medicinsk bioteknologi, 10q deletion, craniosynostosis, Kabuki syndrome, KMT2D, niikawa-kuroki syndrome, genomic disorder, individuals, kdm6a, mll2, Genetics & Heredity
الوصول الحر: https://gup.ub.gu.se/publication/256744Test
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المساهمون: MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: NUTRIM - R1 - Metabolic Syndrome, MUMC+: DA KG Polikliniek (9), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Hormone Research in Paediatrics, 88(3-4), 1-7. Karger
مصطلحات موضوعية: Male, 0301 basic medicine, Endocrinology, Diabetes and Metabolism, Gene mutation, BODY PROPORTIONS, 0302 clinical medicine, Endocrinology, Turner syndrome, Insulin-like growth factor, Child, Prospective cohort study, Histone Demethylases, Body proportions, Human Growth Hormone, Nuclear Proteins, Neoplasm Proteins, IGF-I, DNA-Binding Proteins, Growth hormone treatment, Treatment Outcome, Vestibular Diseases, Child, Preschool, Female, medicine.symptom, medicine.medical_specialty, Hormone Replacement Therapy, RESEARCH-SOCIETY, Catch-up growth, 030209 endocrinology & metabolism, NIIKAWA-KUROKI SYNDROME, Short stature, 03 medical and health sciences, Internal medicine, medicine, Humans, Abnormalities, Multiple, Dwarfism, Pituitary, Kabuki syndrome, TURNER-SYNDROME, business.industry, HEIGHT VELOCITY, Bone age, MAKE-UP SYNDROME, medicine.disease, Hematologic Diseases, 030104 developmental biology, FINAL HEIGHT, Height growth, Face, Mutation, Pediatrics, Perinatology and Child Health, REFERENCE INTERVALS, business, MENTAL-RETARDATION
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0c5cfa94219674be2fe6b140ff15b3Test
https://doi.org/10.1159/000479368Test -
10دورية أكاديمية
المصدر: Schott , D A , Gerver , W J M & Stumpel , C T R M 2017 , ' Growth Hormone Therapy in Children with Kabuki Syndrome : 1-year Treatment Results ' , Hormone Research in Paediatrics , vol. 88 , no. 3-4 , pp. 1-7 . https://doi.org/10.1159/000479368Test
مصطلحات موضوعية: Kabuki syndrome, Growth hormone treatment, Catch-up growth, Insulin-like growth factor, Height growth, Body proportions, NIIKAWA-KUROKI SYNDROME, MAKE-UP SYNDROME, TURNER-SYNDROME, IGF-I, REFERENCE INTERVALS, MENTAL-RETARDATION, RESEARCH-SOCIETY, HEIGHT VELOCITY, FINAL HEIGHT
الإتاحة: https://doi.org/10.1159/000479368Test
https://cris.maastrichtuniversity.nl/en/publications/a1eca332-4f40-4a71-9ec7-2167fa67b6e0Test
النص الكامل