المؤلفون: Ibrahim M. Abdelrazek, Alexej Knaus, Behnam Javanmardi, Peter M. Krawitz, Denise Horn, Ebtesam M. Abdalla, Sheetal Kumar

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)

مصطلحات موضوعية: acromesomelic dysplasia, BMPR1B, du Pan, GDF5, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/37c3d97dea3d4c728ad97674a95dc55b

المؤلفون: Lena‐Luise Becker, Konstantin L. Makridis, Angela T. Abad‐Perez, Ulrich‐Wilhelm Thomale, Anna Tietze, Christian E. Elger, Denise Horn, Angela M. Kaindl

المصدر: Epilepsia Open, Vol 9, Iss 2, Pp 800-807 (2024)

مصطلحات موضوعية: epilepsy, epilepsy surgery, outcome, pediatrics, variant, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2470-9239

URL الوصول: https://doaj.org/article/dd9e53ab3bb1429f9267b4b91901b431

المؤلفون: Alisa Maria Vittoria Reiter, Jean Tori Pantel, Magdalena Danyel, Denise Horn, Claus-Eric Ott, Martin Atta Mensah

المصدر: Journal of Medical Internet Research, Vol 26, p e42904 (2024)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://www.jmir.org/2024/1/e42904; https://doaj.org/toc/1438-8871

URL الوصول: https://doaj.org/article/8a9ef5965b20493eb0badd415f05f0e5

المؤلفون: Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/dc4bcc3fd9a94543a5c2f94cf91155fd

المؤلفون: Lydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew GL Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Narayanan, Christina Prager, Mailys Rupin-Mas, Alexandra Afenjar, Siyuan Zhao, Vincent Th Ramaekers, Sarah M Ruggiero, Simon Thomas, Stéphanie Valence, Lionel Van Maldergem, Tibor Rohacs, Diana Rodriguez, David Dyment, Thomas Voets, Joris Vriens

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: TRPM3, neurodevelopment, intellectual disability, gain-of-function, cerebellar atrophy, epilepsy, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/81032; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/40dfdc180e96470192bccc762e052743

المؤلفون: Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn

المصدر: BMC Medical Genomics, Vol 12, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Dent disease, CLCN5, SHROOM4, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12920-018-0471-6; https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/0ada96be22564bc4ad05f544d8bbdb8e

المؤلفون: Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/569cb18d81a94fddbe69e1080068e13d

المؤلفون: Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz

المصدر: Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: GPI, Anchor biosynthesis defects, Automated image analysis, Gene, Prediction, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13073-017-0510-5; https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/65a240001c28434ca259e07e806334ff

المؤلفون: Jan R. Dörr, Anne Thorwarth, Agnieszka Mizia-Malarz, Josefine Radke, Anna Tietze, Pablo Hernáiz-Driever, Denise Horn, Alexander Gratopp, Angelika Eggert, Hedwig E. Deubzer

المصدر: Children, Vol 8, Iss 6, p 469 (2021)

مصطلحات موضوعية: cancer, cancer predisposition, immune deficiency disorder, multiresistant bacteria, chemotherapy tolerance, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9067/8/6/469; https://doaj.org/toc/2227-9067

URL الوصول: https://doaj.org/article/f0982dc5966a42159874bf1c22ec4a61

المؤلفون: Sharissa L. Latham, Nadja Ehmke, Patrick Y. A. Reinke, Manuel H. Taft, Dorothee Eicke, Theresia Reindl, Werner Stenzel, Michael J. Lyons, Michael J. Friez, Jennifer A. Lee, Ramona Hecker, Michael C. Frühwald, Kerstin Becker, Teresa M. Neuhann, Denise Horn, Evelin Schrock, Indra Niehaus, Katharina Sarnow, Konrad Grützmann, Luzie Gawehn, Barbara Klink, Andreas Rump, Christine Chaponnier, Constanca Figueiredo, Ralf Knöfler, Dietmar J. Manstein, Nataliya Di Donato

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-1 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/91998b811fb04dc49bc89c5cca50080b

المؤلفون: Julia Zimmer, Sandra C Doelken, Denise Horn, Jay C Groppe, Eileen M Shore, Frederick S Kaplan, Petra Seemann

المصدر: PLoS ONE, Vol 7, Iss 4, p e35062 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3329551?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/91abca186ecf4522a59b6d94ef780e28

المؤلفون: Jan Schölzchen, Christoph Treese, Peter Thuss-Patience, Alicja Mrózek, Beate Rau, Hendrik Seeliger, Dirk Hartmann, Lope Estevéz-Schwarz, Britta Siegmund, Denise Horn, Mani Nassir, Severin Daum

المصدر: Cancers; Volume 14; Issue 15; Pages: 3590

مصطلحات موضوعية: adenocarcinoma of the esophageal–gastric junction, Clinical Cancer Registry for Brandenburg and Berlin, diffuse type gastric cancer, familial intestinal gastric cancer, gastric cancer, hereditary diffuse gastric cancer

وصف الملف: application/pdf

Relation: Cancer Epidemiology and Prevention; https://dx.doi.org/10.3390/cancers14153590

الاتاحة: https://doi.org/10.3390/cancers14153590

المؤلفون: Christiane K. Bauer, Tess Holling, Denise Horn, Mário Nôro Laço, Ebtesam Abdalla, Omneya Magdy Omar, Malik Alawi, Kerstin Kutsche

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 9690, p 9690 (2022)

مصطلحات موضوعية: Kv7.1, MiRP1, exome, K + channelopathies, potassium channel, calmodulin, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/23/17/9690; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/dd070170add34d3f98618f3c6e399594

الاتاحة: https://doi.org/10.3390/ijms23179690
https://doaj.org/article/dd070170add34d3f98618f3c6e399594

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J, Schijns, Josephine M, Levy, Michael A, Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A, Williams, Ella M, Halliday, Benjamin J, Huisman, Sylvia A, Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F, Galazzi, Elena, van Gils, Julien, Hurst, Anna C E, Kaiser, Frank J, Lacombe, Didier, Martinez-Monseny, Antonio F, Fergelot, Patricia, Monteiro, Fabíola P, Parenti, Ilaria, Persani, Luca, Santos-Simarro, Fernando, Simpson, Brittany N, Alders, Mariëlle, Robertson, Stephen P, Sadikovic, Bekim, Menke, Leonie A The members of the MKHK Research Consortium are An- drea Angius, Janice A. Baker, Emma Bedoukian, Vikas Bhambhani, Olaf Bodamer, Alan O’Brien, Jill Clayton- Smith, Laura Crisponi, Anna Mar ́ıa Cueto Gonza ́lez, the DDD study, Koenraad Devriendt, Elena Dominguez Gar- rido, Nadja Ehmke, Albertien van Eerde, Annette P. M. van den Elzen, Laurence Faivre, Laura Fisher, Josue A. Flores- Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto Garc ́ıa-Min ̃au ́r, Livia Garavelli, That- jana Gardeitchik, Erica H. Gerkes, Julien van Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Riddervold Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilencikova, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, Maja Kovacevi, c, A. M. A. (Guus) Lachmeijer, Brendan Lanpher, Marine Lebrun, Eyby Leon, Angie Ward Lichty, Ruth Lin, Isabel Llano-Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia B. Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury-Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Pat- terson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Per- sico, Valentina Pes, Marzia Pollazzon, Thomas Potjer, Lor- raine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola K. Ragge, Jan Peter Rake, Conny M. A. van Ravenswaaij-Arts, Gillian Rea, Claudia Ruivenkamp, Au- drey Rutz, Sulagna C Saitta, Rossana Sanchez Russo, Gijs W. E. Santen, Elise Schaefer, Vandana Shashi, Laura Schultz-Rogers, Andrea Sluga, Stefano Sotgiu, Elisabeth Steichen-Gersdorf, Jennifer A. Sullivan, Yu Sun, Mohnish Suri, Marco Tartaglia, Matt Tedder, Paulien Terhal, Ian Tully, Nienke Verbeek, Maren Wenzel, Susan M. White, Bing Xiao.

المساهمون: Sadegheh, Haghshena, Hidde J, Bout, Josephine M, Schijn, Michael A, Levy, Jennifer, Kerkhof, Pratibha, Bhai, Haley, Mcconkey, Zandra A, Jenkin, Ella M, William, Benjamin J, Halliday, Sylvia A, Huisman, Peter, Lauffer, Vivian, de Waard, Laura, Witteveen, Siddharth, Banka, Angela F, Brady, Elena, Galazzi, Julien, van Gil, Anna C E, Hurst, Frank J, Kaiser, Didier, Lacombe, Antonio F, Martinez-Monseny, Patricia, Fergelot, Fabíola P, Monteiro, Ilaria, Parenti, Luca, Persani, Fernando, Santos-Simarro, Brittany N, Simpson, Mariëlle, Alder, Stephen P, Robertson, Bekim, Sadikovic, Menke, A The members of the MKHK Research Consortium are An- drea Angius, Leonie, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vika, Bodamer, Olaf, O’Brien, Alan, Clayton- Smith, Jill, Crisponi, Laura, Mar ́ıa Cueto Gonza ́lez, Anna, DDD study, The, Devriendt, Koenraad, Dominguez Gar- rido, Elena, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P. M., Faivre, Laurence, Fisher, Laura, Flores- Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, Garc ́ıa-Min ̃au ́r, Sixto, Garavelli, Livia, jana Gardeitchik, That-, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Gonzalez Garcia, Aixa, Riddervold Heimdal, Ketil, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovacevi, Maja, C, (Guus) Lachmeijer, A. M. A., Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Ward Lichty, Angie, Lin, Ruth, Llano-Rivas, Isabel, Ann Lynch, Sally, Maas, Saskia M., Maitz, Silvia B., Mckee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Pat- terson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Per- sico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thoma, raine Potocki, Lor-

مصطلحات موضوعية: CREB-binding protein, DNA methylation, E1A-associated protein p300, MKHK, Menke-Hennekam syndrome, Rubinstein-Taybi syndrome, episignature, intellectual disability, intrinsically disordered linker, zinc-finger domain

Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; volume:5; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/11386/4895476

الاتاحة: https://hdl.handle.net/11386/4895476
https://doi.org/10.1016/j.xhgg.2024.100287

المؤلفون: Ilaria Parenti, Mark B. Mallozzi, Irina Hüning, Cristina Gervasini, Alma Kuechler, Emanuele Agolini, Beate Albrecht, Carolina Baquero, Axel Bohring, Nuria C. Bramswig, Andreas Busche, Andreas Dalski, Yiran Guo, Britta Hanker, Yorck Hellenbroich, Denise Horn, A. Micheil Innes, Chiara Leoni, Yun R. Li, Sally Ann Lynch, Milena Mariani, Livija Medne, Barbara Mikat, Donatella Milani, Roberta Onesimo, Xilma Ortiz-Gonzalez, Eva Christina Prott, Heiko Reutter, Eva Rossier, Angelo Selicorni, Peter Wieacker, Alisha Wilkens, Dagmar Wieczorek, Elaine H. Zackai, Giuseppe Zampino, Birgit Zirn, Hakon Hakonarson, Matthew A. Deardorff, Gabriele Gillessen-Kaesbach, Frank J. Kaiser

المساهمون: I. Parenti, M.B. Mallozzi, I. Hüning, C.C.G. Gervasini, A. Kuechler, E. Agolini, B. Albrecht, C. Baquero, A. Bohring, N.C. Bramswig, A. Busche, A. Dalski, Y. Guo, B. Hanker, Y. Hellenbroich, D. Horn, A. Micheil Inne, C. Leoni, Y.R. Li, S. Ann Lynch, M. Mariani, L. Medne, B. Mikat, D. Milani, R. Onesimo, X. Ortiz-Gonzalez, E. Christina Prott, H. Reutter, E. Rossier, A. Selicorni, P. Wieacker, A. Wilken, D. Wieczorek, E.H. Zackai, G. Zampino, B. Zirn, H. Hakonarson, M.A. Deardorff, G. Gillessen-Kaesbach, F.J. Kaiser

مصطلحات موضوعية: ANKRD11, Cornelia de Lange syndrome (CdLS), KBG syndrome (KBGS), chromatinopathie, developmental disorders, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/33955014; info:eu-repo/semantics/altIdentifier/wos/WOS:000650217800001; journal:CLINICAL GENETICS; http://hdl.handle.net/2434/843883; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85105705121

الاتاحة: http://hdl.handle.net/2434/843883
https://doi.org/10.1111/cge.13977

المؤلفون: Felix Boschann, Sabine Kosmehl, Marc Bloching, Johannes Grünhagen, Gabriele Hildebrand, Denise Horn, Stefan Lyutenski

المصدر: American Journal of Medical Genetics Part A. 191:1128-1132

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::484d6dd3d1abddef98706d4477e32622
https://doi.org/10.1002/ajmg.a.63122

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d78667c83474a24a53d20600fd92dca2
https://doi.org/10.1007/s00112-022-01574-w

المؤلفون: Lena-Luise Becker, Frédéric Ebstein, Denise Horn, Christos C Zouboulis, Elke Krüger, Angela M Kaindl, Anna Tietze, Angelika Eger, Tilmann Kallinich, Saskia Biskup, Simone Schmid, Werner Stenzel, Hanna Münzfeld, Ulrike Blume-Peytavi

المصدر: The Lancet Neurology. 21:682-686

مصطلحات موضوعية: Central Nervous System Neoplasms, Malignant Atrophic Papulosis, Humans, Family, Neurology (clinical), Child, Receptors, Interferon, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ca8d9ea5f415299c2d0313c44f81f2
https://doi.org/10.1016/s1474-4422(22)00167-3

المؤلفون: Vinzenz May, Leonard Koch, Björn Fischer-Zirnsak, Denise Horn, Petra Gehle, Uwe Kornak, Dieter Beule, Manuel Holtgrewe

المصدر: Bioinformatics. 38:3871-3876

مصطلحات موضوعية: Statistics and Probability, DNA Copy Number Variations, copy number variation, High-Throughput Nucleotide Sequencing, Exons, Biochemistry, Computer Science Applications, Computational Mathematics, Computational Theory and Mathematics, next-generation sequencing, targeted sequencing, Molecular Biology, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1669a949658f75ea1a7ed4698ad6ea9
https://doi.org/10.1093/bioinformatics/btac418

المؤلفون: Luisa Averdunk, Sandra Donkervoort, Denise Horn, Stephan Waldmüller, Safoora Syeda, Sarah B. Neuhaus, Katherine R. Chao, Anne van Riesen, Darja Gauck, Tobias Haack, Anna S. Japp, Unaa Lee, Carsten G. Bönnemann, Ertan Mayatepek, Felix Distelmaier

المصدر: Neuropediatrics. 53:309-320

مصطلحات موضوعية: Arthrogryposis, Contracture, Muscular Diseases, Mutation, Pediatrics, Perinatology and Child Health, Infant, Newborn, Humans, Muscle Hypotonia, Protein Isoforms, Connectin, Neurology (clinical), General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acbc6ed71ea5308535019e1cea2287ce
https://doi.org/10.1055/a-1859-0800