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1دورية أكاديمية
المؤلفون: Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers
المصدر: Frontiers in Physiology, Vol 10 (2019)
مصطلحات موضوعية: PIBF1, Joubert syndrome, Xenopus, molar tooth sign, cilia, ciliopathy, Physiology, QP1-981
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Mattias Schäfer, Martina Kadmon, Wolfgang Schmidt, Irmgard Treiber, Ute Moog, Christian Sutter, Maximilian Stehr
المصدر: European Journal of Pediatric Surgery Reports, Vol 04, Iss 01, Pp 017-021 (2016)
مصطلحات موضوعية: gardner fibroma, fap, neonatology, familial adenomatous polyposis, premalignant lesion, Pediatrics, RJ1-570, Surgery, RD1-811
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Jonathon Blake, Andrew Riddell, Susanne Theiss, Alexis Perez Gonzalez, Bettina Haase, Anna Jauch, Johannes W G Janssen, David Ibberson, Dinko Pavlinic, Ute Moog, Vladimir Benes, Heiko Runz
المصدر: PLoS ONE, Vol 9, Iss 3, p e90894 (2014)
وصف الملف: electronic resource
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4
المؤلفون: Angela M. Kaindl, Julia B. Hennermann, Hans H. Niller, Ute Hehr, Horst von Bernuth, Rabih Chaoui, Sybille Landwehr-Kenzel, Gabriele Hahn, Christine Mundlos, Ulrich-Wilhelm Thomale, Thorsten Rosenbaum, Ute Moog, Denise Horn, Maja von der Hagen
المصدر: Monatsschrift Kinderheilkunde. 170:929-933
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Surgery
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5
المؤلفون: Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr
المصدر: Medizinische Genetik. 34:189-191
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d28926a168620bb9a63e9908d89f70a3
https://doi.org/10.1515/medgen-2022-2122 -
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المؤلفون: Milena Paneque, Clara Serra Juhé, Bela Melegh, Isabel Carreira, Ute Moog, Thomas Liehr
المصدر: Medizinische Genetik. 34:81-83
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f636e7cd91f84b0b0d4b310bc115f6aa
https://doi.org/10.1515/medgen-2022-2116 -
7
المؤلفون: Caroline M, Kolvenbach, Tim, Felger, Luca, Schierbaum, Isabelle, Thiffault, Tomi, Pastinen, Maria, Szczepańska, Marcin, Zaniew, Piotr, Adamczyk, Allan, Bayat, Öznur, Yilmaz, Tobias T, Lindenberg, Holger, Thiele, Friedhelm, Hildebrandt, Katrin, Hinderhofer, Ute, Moog, Alina C, Hilger, Bonnie, Sullivan, Lauren, Bartik, Piotr, Gnyś, Phillip, Grote, Benjamin, Odermatt, Heiko M, Reutter, Gabriel C, Dworschak
المصدر: Journal of medical genetics.
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8
المؤلفون: Lottie D, Morison, Elisabeth, Meffert, Miriam, Stampfer, Irene, Steiner-Wilke, Brigitte, Vollmer, Katrin, Schulze, Tracy, Briggs, Ruth, Braden, Adam, Vogel, Daisy, Thompson-Lake, Chirag, Patel, Edward, Blair, Himanshu, Goel, Samantha, Turner, Ute, Moog, Angelika, Riess, Frederique, Liegeois, David A, Koolen, David J, Amor, Tjitske, Kleefstra, Simon E, Fisher, Christiane, Zweier, Angela T, Morgan
المصدر: Journal of medical genetics.
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9
المؤلفون: Laura Gieldon, Katrin Hinderhofer, Lilian T. Kaufmann, Anna Jauch, Ulrich Haug, Ute Moog, Katharina Obeid
المصدر: American Journal of Medical Genetics Part A. 185:1261-1265
مصطلحات موضوعية: Genetics, Intellectual impairment, Karyotype, Biology, medicine.disease, Phenotype, Exon, medicine.anatomical_structure, Autism spectrum disorder, Intellectual disability, medicine, Haploinsufficiency, Genetics (clinical), Germ cell
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10
المؤلفون: Murtadha Al-Saady, Richard J. Huntsman, Maaike Vreeburg, Annette Bley, Aurora Pujol, Maja Hempel, Ingeborg Krägeloh-Mann, Marjo S van der Knaap, Agustí Rodríguez-Palmero, Tatjana Bierhals, Inga Harting, Stephanie Karch, Ute Moog, Nicole I. Wolf, Geneviève Bernard, Petra J. W. Pouwels, Rosalina M. L. van Spaendonk
المساهمون: Functional Genomics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Brain Imaging, Radiology and nuclear medicine
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Neurogenetics, 21(2), 121-133. Springer Verlag
Neurogenetics, 21(2), 121-133. Springer, Cham
Harting, I, Al-Saady, M, Krägeloh-Mann, I, Bley, A, Hempel, M, Bierhals, T, Karch, S, Moog, U, Bernard, G, Huntsman, R, van Spaendonk, R M L, Vreeburg, M, Rodríguez-Palmero, A, Pujol, A, van der Knaap, M S, Pouwels, P J W & Wolf, N I 2020, ' POLR3A variants with striatal involvement and extrapyramidal movement disorder ', Neurogenetics, vol. 21, no. 2, pp. 121-133 . https://doi.org/10.1007/s10048-019-00602-4
Neurogenetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Male, 0301 basic medicine, Pathology, Superior cerebellar peduncle, Choreiform movement, Caudate nucleus, Lipoproteïnes, PHENOTYPE, 0302 clinical medicine, Basal ganglia, Malalties hereditàries, CATALYTIC SUBUNIT, 4H LEUKODYSTROPHY, Genetics (clinical), DIFFUSE HYPOMYELINATION, Dystonia, RECESSIVE MUTATIONS, Movement Disorders, Putamen, Brain, White Matter, medicine.anatomical_structure, Child, Preschool, Original Article, Female, CLINICAL SPECTRUM, Genetic disorders, Brainstem, Hypomyelination, MRI, Adult, medicine.medical_specialty, Lipoproteins, Striatum, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, Atrophy, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, business.industry, POLR3A, Leukodystrophy, Infant, RNA Polymerase III, medicine.disease, POLR3-RELATED LEUKODYSTROPHY, Neostriatum, 030104 developmental biology, Mutation, Inferior cerebellar peduncle, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf