المؤلفون: Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, Ingo Kurth, Matthias Begemann, Florian Kraft

المصدر: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: CNV, NGS, CNVkit, AnnotSV, Snakemake, Long-read sequencing, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/8817d02644c646b581b25199d78baa15

المؤلفون: Axel Schmidt, Nicolas Casadei, Fabian Brand, German Demidov, Elaheh Vojgani, Ayda Abolhassani, Rana Aldisi, Guillaume Butler-Laporte, DeCOI host genetics group, T Madhusankha Alawathurage, Max Augustin, Robert Bals, Carla Bellinghausen, Marc Moritz Berger, Michael Bitzer, Christian Bode, Jannik Boos, Thorsten Brenner, Oliver A Cornely, Thomas Eggermann, Johanna Erber, Torsten Feldt, Christian Fuchsberger, Julien Gagneur, Siri Göpel, Tobias Haack, Helene Häberle, Frank Hanses, Julia Heggemann, Ute Hehr, Johannes C Hellmuth, Christian Herr, Anke Hinney, Per Hoffmann, Thomas Illig, Björn-Erik Ole Jensen, Verena Keitel, Sarah Kim-Hellmuth, Philipp Koehler, Ingo Kurth, Anna-Lisa Lanz, Eicke Latz, Clara Lehmann, Tom Luedde, Carlo Maj, Michael Mian, Abigail Miller, Maximilian Muenchhoff, Isabell Pink, Ulrike Protzer, Hana Rohn, Jan Rybniker, Federica Scaggiante, Anna Schaffeldt, Clemens Scherer, Maximilian Schieck, Susanne V Schmidt, Philipp Schommers, Christoph D Spinner, Maria J G T Vehreschild, Thirumalaisamy P Velavan, Sonja Volland, Sibylle Wilfling, Christof Winter, J Brent Richards, DeCOI, André Heimbach, Kerstin Becker, Stephan Ossowski, Joachim L Schultze, Peter Nürnberg, Markus M Nöthen, Susanne Motameny, Michael Nothnagel, Olaf Riess, Eva C Schulte, Kerstin U Ludwig

المصدر: PLoS Pathogens, Vol 20, Iss 12, p e1012786 (2024)

مصطلحات موضوعية: Immunologic diseases. Allergy, RC581-607, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7366; https://doaj.org/toc/1553-7374

URL الوصول: https://doaj.org/article/1e791f568ea0417a9070a1420ba5cbc7

المؤلفون: Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

المصدر: Clinical Epigenetics, Vol 16, Iss 1, Pp 1-19 (2024)

مصطلحات موضوعية: Differentially methylated regions, DMR, Multi-locus imprinting disturbance, MLID, Imprinting disorder, Clinical diagnosis, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/55647b2d116f4168a75d09b18186ddb5

المؤلفون: Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

المصدر: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8

المؤلفون: Asmaa K. Amin, Jeremias Krause, Thomas Eggermann

المصدر: Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-5 (2024)

مصطلحات موضوعية: 11p13 microduplication syndrome, Silver–Russell syndrome, SLC1A2, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/153e4c9ef32146559747e1e862ef44c1

المؤلفون: Axel Krug, Vanessa Nieratschker, Valentin Markov, Sören Krach, Andreas Jansen, Klaus Zerres, Thomas Eggermann, Tony Stöcker, N. Jon Shah, Jens Treutlein, Thomas W. Mühleisen, Tilo Kircher

المصدر: NeuroImage, Vol 297, Iss , Pp 120741- (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1053811924002386; https://doaj.org/toc/1095-9572

URL الوصول: https://doaj.org/article/ebe9ee839f71429d80aa1ed46777b8ad

المؤلفون: Dirk Prawitt, Thomas Eggermann

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: overgrowth, omics, diagnostics, mosaicism, long read sequencing, massive parallel sequencing (MPS), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1382371/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/abb361e622f5435899a204fe80c937c5

المؤلفون: Elia Schlaich, Wouter H. G. Hubens, Thomas Eggermann

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)

مصطلحات موضوعية: imprinting disorders, mosaicism, MS‐ddPCR, MS‐MLPA, MS‐pyrosequencing, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/43a7dcfcf5934e0b8708de28a9b2f3b3

المؤلفون: Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann

المصدر: Clinical Epigenetics, Vol 15, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Beckwith–Wiedemann syndrome, Silver–Russell syndrome, Multilocus imprinting disturbances, Maternal effect variants, ImprintSeq, MS-MLPA, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/72db940598164642b5188d503706398c

المؤلفون: Arnim J. Gaebler, Nilüfer Fakour, Felix Stöhr, Jana Zweerings, Arezoo Taebi, Mariia Suslova, Juergen Dukart, Joerg F. Hipp, Bhim M. Adhikari, Peter Kochunov, Suresh D. Muthukumaraswamy, Anna Forsyth, Thomas Eggermann, Florian Kraft, Ingo Kurth, Michael Paulzen, Gerhard Gründer, Frank Schneider, Klaus Mathiak

المصدر: Translational Psychiatry, Vol 13, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2158-3188

URL الوصول: https://doaj.org/article/2a27b92802e64b309b19055bac2f2fa8

المؤلفون: Danielle Christine Maria van der Kaay, Anne Rochtus, Gerhard Binder, Ingo Kurth, Dirk Prawitt, Irène Netchine, Gudmundur Johannsson, Anita C S Hokken-Koelega, Miriam Elbracht, Thomas Eggermann

المصدر: Endocrine Connections, Vol 11, Iss 11, Pp 1-14 (2022)

مصطلحات موضوعية: genetic testing, growth disturbances, growth retardation, overgrowth, genome medicine, interdisciplinary clinical management, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/11/11/EC-22-0277.xml; https://doaj.org/toc/2049-3614

URL الوصول: https://doaj.org/article/52ab69c02a8747578bd4fbdacf05de0e

المؤلفون: Naomi Baba, Anna Lengyel, Eva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, György Fekete, Thomas Eggermann

المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Silver-Russell syndrome (SRS), PLAG1, 1q21.q21.2 deletion, Molecular karyotyping, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/3564b961a52a48068673a7bad6dd98a4

المؤلفون: Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Thomas Eggermann

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Silver–Russell syndrome, Next generation sequencing, Diagnostic detection rate, Whole exome sequencing, Targeted multigene panel NGS, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4e0d71bb0418490ba2976642d45bd6ae

المؤلفون: Thomas Eggermann, Miriam Elbracht, Ingo Kurth, Anders Juul, Trine Holm Johannsen, Irène Netchine, George Mastorakos, Gudmundur Johannsson, Thomas J. Musholt, Martin Zenker, Dirk Prawitt, Alberto M. Pereira, Olaf Hiort, on behalf of the European Reference Network on Rare Endocrine Conditions (ENDO-ERN

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: Rare endocrine conditions, Genetic testing, Imprinting disorders, Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01420-w; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/638f0e03cfd642ceb6f5dd7f9acab5fd

المؤلفون: Jonathan Hollmann, Johanna Brecht, Roman Goetzke, Julia Franzen, Anton Selich, Marco Schmidt, Monika Eipel, Alina Ostrowska, Jan Hapala, Eduardo Fernandez-Rebollo, Gerhard Müller-Newen, Michael Rothe, Thomas Eggermann, Martin Zenke, Wolfgang Wagner

المصدر: Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-13 (2020)

مصطلحات موضوعية: Mesenchymal stromal cells, Induced pluripotent stem cells, Clonality, RGB marking, Genetic barcoding, Limiting dilution, Medicine (General), R5-920, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13287-020-01619-5; https://doaj.org/toc/1757-6512

URL الوصول: https://doaj.org/article/df179f3bd39144b6b52fc3d37e4a90fc

المؤلفون: Martin Kirschner, Inga Rebecca Heinen, Steffen Koschmieder, Licinio Manco, Celeste Bento, Thomas Eggermann, Ingo Kurth, Edgar Jost, Tim H. Brümmendorf, Roland Fuchs

المصدر: Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)

مصطلحات موضوعية: basophilic stippling, hemolysis, hereditary anemia, pyrimidine 5‐nucleotidase (P5′N‐1) deficiency, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/e326d79000324b459096688139339b65

المؤلفون: Theresa H. Wirtz, Philipp A. Reuken, Christian Jansen, Petra Fischer, Irina Bergmann, Christina Backhaus, Christoph Emontzpohl, Johanna Reißing, Elisa F. Brandt, M. Teresa Koenen, Kai M. Schneider, Robert Schierwagen, Maximilian J. Brol, Johannes Chang, Henning W. Zimmermann, Nilay Köse-Vogel, Thomas Eggermann, Ingo Kurth, Christian Stoppe, Richard Bucala, Jürgen Bernhagen, Michael Praktiknjo, Andreas Stallmach, Christian Trautwein, Jonel Trebicka, Tony Bruns, Marie-Luise Berres

المصدر: JHEP Reports, Vol 3, Iss 2, Pp 100221- (2021)

مصطلحات موضوعية: Acute-on-chronic liver failure, Inflammation, Liver cirrhosis, Biomarker, Survival, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589555920301555; https://doaj.org/toc/2589-5559

URL الوصول: https://doaj.org/article/74e1d74705f34501b1c9829b64a7c90a

المؤلفون: Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht, Thomas Eggermann

المصدر: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Imprinting centre 1, H19/IGF2:IG-DMR, Deletion, Nanopore sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13148-019-0629-x; https://doaj.org/toc/1868-7075; https://doaj.org/toc/1868-7083

URL الوصول: https://doaj.org/article/3946b309d9644ce2980920ee40fead52

المؤلفون: Kathrin Olschok, Udo Vester, Sven Lahme, Ingo Kurth, Thomas Eggermann

المصدر: BMC Nephrology, Vol 19, Iss 1, Pp 1-4 (2018)

مصطلحات موضوعية: Cystinuria, Mutation, AGT1/SLC7A13, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12882-018-1080-5; https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/479113704cfd442eb160fa2595d0ab9d

المؤلفون: Jasmin Beygo, Claudia Mertel, Sabine Kaya, Gabriele Gillessen-Kaesbach, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting

المصدر: Epigenetics, Vol 13, Iss 8, Pp 822-828 (2018)

مصطلحات موضوعية: temple syndrome, genomic imprinting, imprint establishment, methylation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1559-2294; https://doaj.org/toc/1559-2308

URL الوصول: https://doaj.org/article/2dedb7cd87464bab982259b254e89412