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المؤلفون: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz
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 geneticsمصطلحات 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 -
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المؤلفون: Stephanie Spranger, M Lanz, F Hinrichs, R Voigt, Christine Zühlke, Ulrike Gehlken, Eberhard Schwinger, M Spranger
المصدر: European Journal of Human Genetics. 11:629-632
مصطلحات موضوعية: Adult, Ataxia, RNA polymerase II, medicine.disease_cause, Peptide Initiation Factors, Genetics, medicine, Humans, Spinocerebellar Ataxias, Age of Onset, Allele, Genetics (clinical), Chromosome Aberrations, TATA-Binding Protein Associated Factors, Mutation, biology, Cerebellar ataxia, Homozygote, medicine.disease, Glutamine, Spinocerebellar ataxia, biology.protein, Chromosomes, Human, Pair 6, Dementia, Female, medicine.symptom, Peptides, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4054e8c3ceb0dc4274adaf5e7e27d67Test
https://doi.org/10.1038/sj.ejhg.5201018Test -
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المؤلفون: Eberhard Schwinger, Ulrike Gehlken, Jorge Cervos-Navarro, H. Pickartz, Yorck Hellenbroich, Thomas E. O. Schubert, Christine Zühlke, K. Wessel, Franziska Schaaff
المصدر: Human Genetics. 100:339-344
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Mitosis, Nerve Tissue Proteins, Biology, medicine.disease_cause, Polymerase Chain Reaction, Primer extension, Fixatives, Germline mutation, Trinucleotide Repeats, Formaldehyde, Freezing, Genetics, medicine, Humans, Allele, Gene, Alleles, Ataxin-1, Genetics (clinical), DNA Primers, Spinocerebellar Degenerations, Mutation, Nuclear Proteins, Middle Aged, medicine.disease, genomic DNA, Huntington Disease, Ataxins, Spinocerebellar ataxia, Microsatellite
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9beffd50a28995824eb2b0016a7be5b4Test
https://doi.org/10.1007/s004390050513Test -
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المصدر: Journal of Neurology. 250:161-163
مصطلحات موضوعية: Genetics, Cerebellum, Ataxia, Cerebellar ataxia, Chorea, Biology, medicine.disease, Penetrance, medicine.anatomical_structure, Neurology, medicine, Spinocerebellar ataxia, Neurology (clinical), medicine.symptom, Allele, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e30f224e076bef1e769a36cae04b4bebTest
https://doi.org/10.1007/s00415-003-0958-7Test -
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المؤلفون: Christine, Zühlke, Ulrike, Gehlken, Yorck, Hellenbroich, Eberhard, Schwinger, Katrin, Bürk
المصدر: Journal of neurology. 250(2)
مصطلحات موضوعية: Adult, Male, Reverse Transcriptase Polymerase Chain Reaction, Penetrance, Middle Aged, TATA-Box Binding Protein, Pedigree, Phenotype, Molecular Diagnostic Techniques, Chorea, Humans, Spinocerebellar Ataxias, Dementia, Family, Female, Dinucleotide Repeats, Alleles, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f4227b213ac6dbcfde4ca94a07fd9906Test
https://pubmed.ncbi.nlm.nih.gov/12574945Test -
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المؤلفون: Sabine Purmann, Franco Laccone, Ulrike Gehlken, Christine Zühlke, Bertram Müller-Myhsok, Markus Kunisch, Friedmar Kreuz
المصدر: Human heredity. 49(2)
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Linkage disequilibrium, Ataxia, Linkage Disequilibrium, Evolution, Molecular, Exon, Gene mapping, Germany, Iron-Binding Proteins, Genetics, medicine, Humans, Genetics (clinical), biology, Haplotype, Sequence Analysis, DNA, Phosphotransferases (Alcohol Group Acceptor), Haplotypes, Friedreich Ataxia, Frataxin, biology.protein, medicine.symptom, Trinucleotide repeat expansion, Trinucleotide Repeat Expansion, Polymorphism, Restriction Fragment Length, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57629ed6fcc06deaa6d60b896f02204dTest
https://pubmed.ncbi.nlm.nih.gov/10077729Test -
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المؤلفون: Sabine Purmann, Andreas Dalski, A. Budnik, M. Schmidt, Markus Naumann, Eberhard Schwinger, Ulrike Gehlken, Ch. Zühlke, Katrin Bürk
المصدر: Journal of Neurology. 251:1418-1419
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Ataxia, Neurology, business.industry, Public health, Late onset, medicine.disease, FMR1, medicine, Neurology (clinical), medicine.symptom, business, Neuroradiology, Fragile X-associated tremor/ataxia syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::474010d0ddfeb77e4c84d36fc2f311a8Test
https://doi.org/10.1007/s00415-004-0558-1Test -
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المؤلفون: Helen Meija-Santana, Christine Klein, Helfried Jacobs, Norman Kock, Ulrike Gehlken, Peter P. Pramstaller, Karen Marder, Juliette Harris, Katja Hedrich, Eberhard Schwinger, Peter Vieregge, Paolo Martinelli, Birgitt Müller, Zbigniew K. Wszolek, Biljana Culjkovic, Stanley Fahn, Christine Zühlke, Anthony E. Lang, Martin Kann, Johann Hagenah, Giovanni Abbruzzese
المصدر: Annals of Neurology. 52:257-258
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Parkinsonism, MEDLINE, Late onset, Drug resistance, medicine.disease, Neurology, medicine, Neurology (clinical), Age of onset, business, Psychiatry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::05b07531d2779ad3887a0c1a3967ca7eTest
https://doi.org/10.1002/ana.10270Test