نتائج البحث - "Melanie Hullings"

المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, CareRare Canada Consortium, University of Washington Center for Mendelian Genomics

المصدر: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002Test
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular genetics

مصطلحات موضوعية: Male, Care4Rare Canada Consortium, medicine.disease_cause, Bioinformatics, Medical and Health Sciences, Cohort Studies, Congenital, Genes, X-Linked, De Lange Syndrome, 2.1 Biological and endogenous factors, Missense mutation, Eye Abnormalities, Aetiology, Hypertelorism, Child, Genetics (clinical), X-linked recessive inheritance, Pediatric, Genetics & Heredity, Genetics, screening and diagnosis, Mutation, Genetic disorder, Articles, General Medicine, Biological Sciences, Chemistry, Detection, Phenotype, Child, Preschool, Female, medicine.symptom, Cornelia de Lange Syndrome, Cohesin complex, Intellectual and Developmental Disabilities (IDD), Molecular Sequence Data, Cranial Fontanelles, Mutation, Missense, Biology, Histone Deacetylases, Rare Diseases, medicine, Humans, Amino Acid Sequence, Dental/Oral and Craniofacial Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], University of Washington Center for Mendelian Genomics, Preschool, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, NIPBL, X-Linked, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Repressor Proteins, Genes, Human medicine, Missense, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfeTest
https://doi.org/10.1093/hmg/ddu002Test

10

CTC versus biopsy tissue sequencing: A concordance analysis of genomic copy number profile from mCRPC patients (pts)

المؤلفون: Nicole A. Schreiber, Emily Carbone, Nikolaus Schultz, Michael F. Berger, Mark Landers, Nadia Ebrahim, Melanie Hullings, Howard I. Scher, David B. Solit, Angel E. Dago, Ethan Barnett, Ryan Dittamore, Jerry Lee, Yipeng Wang, Ramsay Sutton

المصدر: Journal of Clinical Oncology. 37:3050-3050

مصطلحات موضوعية: Oncology, Cancer Research, Mutation profiling, medicine.medical_specialty, Concordance analysis, medicine.diagnostic_test, Somatic cell, business.industry, Cancer, medicine.disease, Internal medicine, Biopsy, medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1a663397bb19fb396291ac33ade63ffdTest
https://doi.org/10.1200/jco.2019.37.15_suppl.3050Test

تنقيح النتائج