المؤلفون: Kopp, Johannes, Koch, Leonard A., Lyubenova, Hristiana, Küchler, Oliver, Holtgrewe, Manuel, Ivanov, Andranik, Dubourg, Christele, Launay, Erika, Brachs, Sebastian, Mundlos, Stefan, Fischer-Zirnsak, Björn

المساهمون: Kopp, Johannes, Koch, Leonard A., Lyubenova, Hristiana, Küchler, Oliver, Holtgrewe, Manuel, Ivanov, Andranik, Dubourg, Christele, Launay, Erika, Brachs, Sebastian, Mundlos, Stefan, Fischer-Zirnsak, Björn

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/143049; 2669

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/143049
https://doi.org/10.1007/s00439-024-02669-y

المؤلفون: de los Santos, Miguel Rodríguez, Rivalan, Marion, David, Friederike S., Stumpf, Alexander, Pitsch, Julika, Tsortouktzidis, Despina, Velasquez, Laura Moreno, Voigt, Anne, Schilling, Karl, Mattei, Daniele, Long, Melissa, Vogt, Guido, Knaus, Alexej, Fischer-Zirnsak, Björn, Wittler, Lars, Timmermann, Bernd, Robinson, Peter N., Horn, Denise, Mundlos, Stefan, Kornak, Uwe, Becker, Albert J., Schmitz, Dietmar, Winter, York, Krawitz, Peter M.

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2021 Jan 01. 118(2), 1-11.

URL الوصول: https://www.jstor.org/stable/27005959

المؤلفون: Heck, Roland, Fischer-Zirnsak, Björn, Photiadis, Joachim, Horn, Denise, Gehle, Petra

المصدر: Interdisciplinary CardioVascular and Thoracic Surgery ; volume 36, issue 1 ; ISSN 2753-670X

الاتاحة: http://dx.doi.org/10.1093/icvts/ivad011
https://academic.oup.com/icvts/advance-article-pdf/doi/10.1093/icvts/ivad011/48773760/ivad011.pdf
https://academic.oup.com/icvts/article-pdf/36/1/ivad011/49286195/ivad011.pdf

المؤلفون: Terhal, Paulien, Venhuizen, Anton J., Lessel, Davor, Tan, Wen-Hann, Alswaid, Abdulrahman, Grün, Regina, Alzaidan, Hamad I., von Kroge, Simon, Ragab, Nada, Hempel, Maja, Kubisch, Christian, Novais, Eduardo, Cristobal, Alba, Tripolszki, Kornelia, Bauer, Peter, Fischer-Zirnsak, Björn, Nievelstein, Rutger A.J., van Dijk, Atty, Nikkels, Peter, Oheim, Ralf, Hahn, Heidi, Bertoli-Avella, Aida, Maurice, Madelon M., Kornak, Uwe

المصدر: The American Journal of Human Genetics ; volume 110, issue 9, page 1470-1481 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2023.07.011
https://api.elsevier.com/content/article/PII:S0002929723002513?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929723002513?httpAccept=text/plain

المؤلفون: Boschann, Felix, Cogulu, Ozgur, Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Fischer-Zirnsak, Björn, Badura, Simon, Durmaz, Burak, Ozkinay, Ferda, Hägerling, René, Posey, Jennifer E., Stricker, Sigmar, Gillessen-Kaesbach, Gabriele, Spielmann, Malte, Horn, Denise, Brockmann, Knut, Lupski, James R., Kornak, Uwe, Schmidt, Julia

المصدر: Genetics in Medicine ; volume 25, issue 5, page 100799 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2023.100799
https://api.elsevier.com/content/article/PII:S1098360023008122?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023008122?httpAccept=text/plain

المؤلفون: Boschann, Felix, Moreno, Daniel Acero, Mensah, Martin A., Sczakiel, Henrike L., Skipalova, Karolina, Holtgrewe, Manuel, Mundlos, Stefan, Fischer-Zirnsak, Björn

مصطلحات موضوعية: Chromosome Aberrations, Genetic Diseases, Intellectual Disability, Vocal Cord Paralysis, ddc:610

وصف الملف: application/pdf

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/45058
https://doi.org/10.17169/refubium-44770
https://doi.org/10.1038/s10038-022-01018-z

المؤلفون: Steinhaus, Robin, Boschann, Felix, Vogel, Melanie, Fischer-Zirnsak, Björn, Seelow, Dominik

مصطلحات موضوعية: AutozygosityMapper, Consanguineous families, Carpenter Syndrome, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/38551; http://dx.doi.org/10.17169/refubium-38267

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/38551
https://doi.org/10.17169/refubium-38267
https://doi.org/10.1093/nar/gkac280

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

مصطلحات موضوعية: copy number variation, targeted sequencing, next-generation sequencing, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/35412; http://dx.doi.org/10.17169/refubium-35128

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/35412
https://doi.org/10.17169/refubium-35128
https://doi.org/10.1093/bioinformatics/btac418

المؤلفون: Heck, Roland, Fischer-Zirnsak, Björn, Photiadis, Joachim, Horn, Denise, Gehle, Petra

المصدر: Interactive CardioVascular and Thoracic Surgery ; volume 35, issue 1 ; ISSN 1569-9285

الاتاحة: https://doi.org/10.1093/icvts/ivac159
https://academic.oup.com/icvts/advance-article-pdf/doi/10.1093/icvts/ivac159/44022835/ivac159.pdf
https://academic.oup.com/icvts/article-pdf/35/1/ivac159/44278452/ivac159.pdf

المؤلفون: Boschann, Felix, Cogulu, Ozgur, Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Fischer-Zirnsak, Björn, Badura, Simon, Durmaz, Burak, Ozkinay, Ferda, Hägerling, René, Posey, Jennifer E., Stricker, Sigmar, Gillessen-Kaesbach, Gabriele, Spielmann, Malte, Horn, Denise, Brockmann, Knut, Lupski, James R., Kornak, Uwe, Schmidt, Julia

المصدر: Genetics in Medicine ; volume 24, issue 10, page 2187-2193 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.07.012
https://api.elsevier.com/content/article/PII:S1098360022008498?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022008498?httpAccept=text/plain

المؤلفون: Kornak, Uwe, Saha, Namrata, Keren, Boris, Neumann, Alexander, Taylor Tavares, Ana Lisa, Piard, Juliette, Kopp, Johannes, Rodrigues Alves, João Guilherme, Rodríguez de los Santos, Miguel, El Choubassi, Naji, Ehmke, Nadja, Jäger, Marten, Spielmann, Malte, Pantel, Jean Tori, Lejeune, Elodie, Fauler, Beatrix, Mielke, Thorsten, Hecht, Jochen, Meierhofer, David, Strom, Tim M., Laugel, Vincent, Brice, Alexis, Mundlos, Stefan, Bertoli-Avella, Aida, Bauer, Peter, Heyd, Florian, Boute, Odile, Dupont, Juliette, Depienne, Christel, Van Maldergem, Lionel, Fischer-Zirnsak, Björn

المصدر: Genetics in Medicine ; volume 24, issue 9, page 1927-1940 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.05.004
https://api.elsevier.com/content/article/PII:S1098360022007596?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022007596?httpAccept=text/plain

المؤلفون: Kopp, Johannes, Jahn, Denise, Vogt, Guido, Psoma, Anthi, Ratto, Edoardo, Morelle, Willy, Stelzer, Nina, Hausser, Ingrid, Hoffmann, Anne, de Los Santos, Miguel Rodriguez, Koch, Leonard A, Fischer-Zirnsak, Björn, Thiel, Christian, Palm, Wilhelm, Meierhofer, David, van den Bogaart, Geert, Foulquier, François, Meinhardt, Andreas, Kornak, Uwe

المصدر: Cell Mol Life Sci ; ISSN:1420-9071 ; Volume:82 ; Issue:1

مصطلحات موضوعية: Cutis laxa, Globozoospermia, Glycosylation, Golgi, Neuronal migration, Spermiogenesis, V-ATPase, Vesicular trafficking, pH-regulation

Relation: https://doi.org/10.1007/s00018-024-05506-7; https://pubmed.ncbi.nlm.nih.gov/39680136; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649611/

الاتاحة: https://doi.org/10.1007/s00018-024-05506-7
https://pubmed.ncbi.nlm.nih.gov/39680136
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11649611/

المؤلفون: Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel

المصدر: http://lobid.org/resources/99370671251406441#!, 140(10):1459-1469.

مصطلحات موضوعية: Female [MeSH], Lung/abnormalities [MeSH], Organogenesis/genetics [MeSH], Adult [MeSH], Abnormalities, Multiple/genetics [MeSH], Fetus [MeSH], Humans [MeSH], Molecular Medicine, Evolution, Molecular [MeSH], Genome, Human [MeSH], Original Investigation, Male [MeSH], Metabolic Diseases, Lung Diseases/genetics [MeSH], Gene Function, Cadaver [MeSH], Lung/growth, Genetic Variation [MeSH], Pregnancy [MeSH], Lung/ultrastructure [MeSH], Human Genetics

Relation: https://repository.publisso.de/resource/frl:6446828; https://doi.org/10.1007/s00439-021-02344-6; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539/

الاتاحة: https://repository.publisso.de/resource/frl:6446828
https://doi.org/10.1007/s00439-021-02344-6
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8460539/

المؤلفون: Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer-Zirnsak, Björn

مصطلحات موضوعية: ATP6V1A, Golgi apparatus, autosomal recessive cutis laxa, hypotonia, progeroid features, v-ATPase, Adolescent, Alleles, Case-Control Studies, Cutis Laxa, Fibroblasts, Humans, Infant, Newborn, Intellectual Disability, Male, Mutation, Missense, Pedigree, Phenotype, Vacuolar Proton-Translocating ATPases

وصف الملف: text/xml; application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/325596

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/325596
https://doi.org/10.17863/CAM.73053

المؤلفون: Vogt, Guido, Verheyen, Sarah, Schwartzmann, Sarina, Ehmke, Nadja, Potratz, Cornelia, Schwerin-Nagel, Anette, Plecko, Barbara, Holtgrewe, Manuel, Seelow, Dominik, Blatterer, Jasmin, Speicher, Michael R, Kornak, Uwe, Horn, Denise, Mundlos, Stefan, Fischer-Zirnsak, Björn, Boschann, Felix

المصدر: Journal of Medical Genetics ; volume 59, issue 7, page 662-668 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmedgenet-2021-107843
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2021-107843

المؤلفون: Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ágnes, Kölbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, Hübner, Christoph, Mundlos, Stefan, Roos, Andreas, Lochmüller, Hanns, Karcagi, Veronika, Kornak, Uwe, Fischer‐Zirnsak, Björn

مصطلحات موضوعية: ATP6V1A, autosomal recessive cutis laxa, Golgi apparatus, hypotonia, progeroid features, v-ATPase, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/34193; http://dx.doi.org/10.17169/refubium-33911

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/34193
https://doi.org/10.17169/refubium-33911
https://doi.org/10.1002/jimd.12341

المؤلفون: Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter

مصطلحات موضوعية: Genetic Variation, Molecular Sequence Annotation, Rare Diseases, User-Computer Interface, ddc:610

وصف الملف: application/pdf

Relation: https://refubium.fu-berlin.de/handle/fub188/28792; http://dx.doi.org/10.17169/refubium-28541

الاتاحة: https://refubium.fu-berlin.de/handle/fub188/28792
https://doi.org/10.17169/refubium-28541
https://doi.org/10.1093/nar/gkaa241

المؤلفون: Melo, Uirá Souto, Schöpflin, Robert, Acuna-Hidalgo, Rocio, Mensah, Martin Atta, Fischer-Zirnsak, Björn, Holtgrewe, Manuel, Klever, Marius-Konstantin, Türkmen, Seval, Heinrich, Verena, Pluym, Ilina Datkhaeva, Matoso, Eunice, Bernardo de Sousa, Sérgio, Louro, Pedro, Hülsemann, Wiebke, Cohen, Monika, Dufke, Andreas, Latos-Bieleńska, Anna, Vingron, Martin, Kalscheuer, Vera, Quintero-Rivera, Fabiola, Spielmann, Malte, Mundlos, Stefan

المصدر: American Journal of Human Genetics, vol 106, iss 6

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Human Genome, Chromatin Assembly and Disassembly, Chromosome Breakpoints, Chromosomes, Human, Cohort Studies, Developmental Disabilities, Genome, Humans, Molecular Conformation, SOX9 Transcription Factor, Segmental Duplications, Genomic, Translocation, Genetic, Hi-C, chromosome conformation capture, cytogenetics, developmental disorders, ectopic enhancer-promoter interactions, gene misregulation, neo-TAD, topologically associating domains, Medical and Health Sciences, Genetics & Heredity

جغرافية الموضوع: 872 - 884

وصف الملف: application/pdf

Relation: qt6rv3s0s7; https://escholarship.org/uc/item/6rv3s0s7

الاتاحة: https://escholarship.org/uc/item/6rv3s0s7

المؤلفون: Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.

المصدر: The American Journal of Human Genetics ; volume 107, issue 2, page 374 ; ISSN 0002-9297

الاتاحة: https://doi.org/10.1016/j.ajhg.2020.07.013
https://api.elsevier.com/content/article/PII:S0002929720302433?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720302433?httpAccept=text/plain

المؤلفون: Hsieh, Tzung-Chien, Mensah, Martin A, Pantel, Jean T, Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B, Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W, Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J, Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T, Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W, Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M

المساهمون: UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre de génétique médicale UCL

المصدر: Genetics in medicine, Vol. 21, no.12, p. 2807-2814 (2019)

مصطلحات موضوعية: Algorithms, Computational Biology, Databases, Genetic, Deep Learning, Exome, Female, Genomics, Humans, Image Processing, Computer-Assisted, Male, Phenotype, Sequence Analysis, DNA, Software, computer vision, dysmorphology, exome diagnostics, variant prioritization

Relation: boreal:239308; http://hdl.handle.net/2078.1/239308; info:pmid/31164752

الاتاحة: http://hdl.handle.net/2078.1/239308
https://doi.org/10.1038/s41436-019-0566-2