المؤلفون: Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette

المصدر: European Journal of Human Genetics. 31(9)

مصطلحات موضوعية: Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/49z8f5t8
https://escholarship.org/content/qt49z8f5t8/qt49z8f5t8.pdf

المؤلفون: von Elsner, Leonie, Chai, Guoliang, Schneeberger, Pauline E, Harms, Frederike L, Casar, Christian, Qi, Minyue, Alawi, Malik, Abdel-Salam, Ghada MH, Zaki, Maha S, Arndt, Florian, Yang, Xiaoxu, Stanley, Valentina, Hempel, Maja, Gleeson, Joseph G, Kutsche, Kerstin

المصدر: Brain. 145(4)

مصطلحات موضوعية: Brain Disorders, Neurosciences, Clinical Research, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Genetics, Aetiology, 2.1 Biological and endogenous factors, DNA-Binding Proteins, Growth Disorders, Humans, Intellectual Disability, Membrane Proteins, Microcephaly, Neurodevelopmental Disorders, Nuclear Proteins, RNA Splice Sites, RNA-Binding Proteins, Repressor Proteins, exome sequencing, homozygous, major spliceosome, splicing, intellectual disability, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33p8941r

المؤلفون: Harms, Frederike L., Rexach, Jessica Erin, Efthymiou, Stephanie, Aynekin, Busra, Per, Hüseyin, Güleç, Ayten, Nampoothiri, Sheela, Sampaio, Hugo, Sachdev, Rani, Stoeva, Radka, Myers, Kasiani, Pena, Loren D. M., Kalfa, Theodosia A., Chard, Marisa, Klassen, Megan, Pries, Megan, Kutsche, Kerstin

المصدر: European Journal of Human Genetics ; volume 32, issue 5, page 558-566 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-024-01563-5
https://www.nature.com/articles/s41431-024-01563-5.pdf
https://www.nature.com/articles/s41431-024-01563-5

المؤلفون: Lorenz, Stephanie, Krey, Ilona, Harms, Frederike, Freiseis, Anja, Schmid, Florian, Pokora, Roman, Stamos, Kristina, Kohlfürst, Daniela, Albertowski, Anne Sophie

المصدر: Monatsschrift Kinderheilkunde ; volume 171, issue 7, page 643-644 ; ISSN 0026-9298 1433-0474

الاتاحة: https://doi.org/10.1007/s00112-023-01785-9
https://link.springer.com/content/pdf/10.1007/s00112-023-01785-9.pdf
https://link.springer.com/article/10.1007/s00112-023-01785-9/fulltext.html

المؤلفون: Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

المصدر: Genetics in Medicine ; volume 25, issue 11, page 100964 ; ISSN 1098-3600

الاتاحة: https://doi.org/10.1016/j.gim.2023.100964
https://api.elsevier.com/content/article/PII:S1098360023009802?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360023009802?httpAccept=text/plain

المؤلفون: Harms, Frederike Leonie, Girisha, Katta M, Hardigan, Andrew A, Kortüm, Fanny, Shukla, Anju, Alawi, Malik, Dalal, Ashwin, Brady, Lauren, Tarnopolsky, Mark, Bird, Lynne M, Ceulemans, Sophia, Bebin, Martina, Bowling, Kevin M, Hiatt, Susan M, Lose, Edward J, Primiano, Michelle, Chung, Wendy K, Juusola, Jane, Akdemir, Zeynep C, Bainbridge, Matthew, Charng, Wu-Lin, Drummond-Borg, Margaret, Eldomery, Mohammad K, El-Hattab, Ayman W, Saleh, Mohammed AM, Bézieau, Stéphane, Cogné, Benjamin, Isidor, Bertrand, Küry, Sébastien, Lupski, James R, Myers, Richard M, Cooper, Gregory M, Kutsche, Kerstin

المصدر: American Journal of Human Genetics. 100(1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Biotechnology, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, 2.1 Biological and endogenous factors, Aetiology, Generic health relevance, Adolescent, Adult, Amino Acid Substitution, Ataxia, Child, Child, Preschool, Chromatin, Cyclin-Dependent Kinase Inhibitor p21, Developmental Disabilities, Exome, Face, Female, Gene Expression Regulation, Genes, Reporter, HEK293 Cells, Humans, Intellectual Disability, Language Development Disorders, Male, Models, Molecular, Mosaicism, Mutation, Neurodevelopmental Disorders, Protein Transport, Syndrome, Transcription Factors, Transcription, Genetic, EBF3, de novo mutation, developmental delay, gene regulation, intellectual disability, transcription factor, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4d8839q1

المؤلفون: Abdalla, Ebtesam, Alawi, Malik, Meinecke, Peter, Kutsche, Kerstin, Harms, Frederike L.

المساهمون: Deutsche Forschungsgemeinschaft

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 8, page 2448-2453 ; ISSN 1552-4825 1552-4833

الاتاحة: http://dx.doi.org/10.1002/ajmg.a.62762
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62762
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62762

المؤلفون: Lorenz, Stephanie, Krey, Ilona, Harms, Frederike, Freiseis, Anja, Schmid, Florian, Pokora, Roman, Stamos, Kristina, Kohlfürst, Daniela, Albertowski, Anne Sophie

المساهمون: Universitätsklinikum Ulm

المصدر: Monatsschrift Kinderheilkunde ; volume 171, issue 1, page 63-71 ; ISSN 0026-9298 1433-0474

الاتاحة: http://dx.doi.org/10.1007/s00112-022-01642-1
https://link.springer.com/content/pdf/10.1007/s00112-022-01642-1.pdf
https://link.springer.com/article/10.1007/s00112-022-01642-1/fulltext.html

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: Tibbe, Debora, Pan, Yingzhou Edward, Reißner, Carsten, Harms, Frederike L., Kreienkamp, Hans-Jürgen

المساهمون: Pizzo, Salvatore V., Deutsche Forschungsgemeinschaft, University Medical Center Hamburg-Eppendorf

المصدر: PLOS ONE ; volume 16, issue 6, page e0253223 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0253223
https://dx.plos.org/10.1371/journal.pone.0253223

المؤلفون: von Elsner, Leonie, Chai, Guoliang, Schneeberger, Pauline E, Harms, Frederike L, Casar, Christian, Qi, Minyue, Alawi, Malik, Abdel-Salam, Ghada M H, Zaki, Maha S, Arndt, Florian, Yang, Xiaoxu, Stanley, Valentina, Hempel, Maja, Gleeson, Joseph G, Kutsche, Kerstin

المساهمون: Deutsche Forschungsgemeinschaft, NIH, Rady Children’s Institute for Genomic Medicine, Science and Technology Development fund

المصدر: Brain ; volume 145, issue 4, page 1551-1563 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awab403
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab403/43288827/awab403.pdf
https://academic.oup.com/brain/article-pdf/145/4/1551/43811865/awab403.pdf

المؤلفون: Danyukova, Tatyana, Ludwig, Nataniel, Velho, Renata, Harms, Frederike, Güneş, Nilay, Beyhan Tüysüz, Tidow, Henning, Pohl, Sandra

المساهمون: İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

مصطلحات موضوعية: catalytic activity, GlcNAc-1-phosphotransferase, GNPTAB, lysosomal storage disorder, site-1 protease, stealth domains

وصف الملف: application/pdf

Relation: Human Mutation; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1002/humu.23928; https://hdl.handle.net/20.500.12831/1036; 41; 133; 139

الاتاحة: https://doi.org/10.1002/humu.23928
https://hdl.handle.net/20.500.12831/1036

المؤلفون: Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra

مصطلحات موضوعية: Exons, Humans, Introns, Lysosomal Storage Diseases, Nervous System, Mucolipidoses, Phenotype, Prognosis, Protein Domains, Transferases (Other Substituted Phosphate Groups), Mutation, Doenças Genéticas

Relation: Hum Mutat. 2019 Jul;40(7):842-864. doi:10.1002/humu.23748. Epub 2019 Apr 13; http://hdl.handle.net/10400.18/6606

الاتاحة: http://hdl.handle.net/10400.18/6606
https://doi.org/10.1002/humu.23748

المؤلفون: Polovitskaya, Maya M., Barbini, Carlo, Martinelli, Diego, Harms, Frederike L., Cole, F. Sessions, Calligari, Paolo, Bocchinfuso, Gianfranco, Stella, Lorenzo, Ciolfi, Andrea, Niceta, Marcello, Rizza, Teresa, Shinawi, Marwan, Sisco, Kathleen, Johannsen, Jessika, Denecke, Jonas, Carrozzo, Rosalba, Wegner, Daniel J., Kutsche, Kerstin, Tartaglia, Marco, Jentsch, Thomas J.

المساهمون: Deutsche Forschungsgemeinschaft, National Human Genome Research Institute, Louis-Jeantet Foundation

المصدر: The American Journal of Human Genetics ; volume 107, issue 6, page 1062-1077 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2020.11.004
https://api.elsevier.com/content/article/PII:S0002929720304018?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929720304018?httpAccept=text/plain

المؤلفون: Schuette, Verena, Embgenbroich, Maria, Ulas, Thomas, Welz, Meike, Schulte-Schrepping, Jonas, Draffehn, Astrid M., Quast, Thomas, Koch, Katharina, Nehring, Melanie, König, Jessica, Zweynert, Annegret, Harms, Frederike L., Steiner, Nancy, Limmer, Andreas, Förster, Irmgard, Berberich-Siebelt, Friederike, Knolle, Percy A., Wohlleber, Dirk, Kolanus, Waldemar, Beyer, Marc, Schultze, Joachim L., Burgdorf, Sven

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2016 Sep . 113(38), 10649-10654.

URL الوصول: https://www.jstor.org/stable/26471643

المؤلفون: European Research Council, European Commission, Vienna Science and Technology Fund, German Research Foundation, Austrian Academy of Sciences, Centre National de la Recherche Scientifique (France), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Brasil), Wellcome Trust, Netherlands Organisation for Health Research and Development, Dutch Research Council, Austrian Research Promotion Agency, German Academic Exchange Service, European Molecular Biology Laboratory, National Center for Geriatrics and Gerontology (Japan), Genome Canada, Canadian Institutes of Health Research, Block, Jana, Rashkova, Christina, Castanon, Irinka, Zoghi, Samaneh, Platon, Jessica, Ardy,Rico C., Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, Made, Caspar I. van der, Jiménez-Heredia, Raúl, Harms, Frederike L., Alavi, Samin, Alsina, Laia, Sánchez-Moreno, Paula, Ávila Polo, Rainiero, Cabrera-Pérez, Rocío, Kostel Bal, Sevgi, Pfajfer, Laurène, Ransmayr, Bernhard, Mautner, Anna-Katharina, Kondo, Ryohei, Tinnacher, Anna, Caldera, Michael, Schuster, Michael, Domínguez-Conde, Cecilia, Platzer, René, Salzer, Elisabeth, Boyer, Thomas, Brunner, Han G., Nooitgedagt-Frons, Judith E., Iglesias, Estíbaliz, Deyá-Martinez, Ángela, Camacho-Lovillo, Marisol, Menche, Jörg, Bock, Christoph, Huppa, Johannes B., Pickl, Winfried F., Distel, Martin, Yoder, Jeffrey A., Traver, David, Engelhardt, Karin R., Linden, Tobias, Kager, Leo, Hannich, J. Thomas, Hoischen, Alexander, Hambleton, Sophie, Illsinger, Sabine, Da-Costa, Lydie, Kutsche, Kerstin, Chavoshzadeh, Zahra, van Buul, Jaap D., Antón, Jordi, Calzada-Hernández, Joan, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan

مصطلحات الفهرس: artículo

URL: http://hdl.handle.net/10261/353311
http://dx.doi.org/10.1056/NEJMoa2210054
Sí
info:eu-repo/grantAgreement/EC/H2020/820074

المؤلفون: Block, Jana, Rashkova, Christina, Castanon, Irinka, Zoghi, Samaneh, Platon, Jessica, Ardy, Rico, Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, van der Made, Caspar, Jimenez Heredia, Raul, Harms, Frederike, Alavi, Samin, Alsina, Laia, Sanchez Moreno, Paula, Ávila Polo, Rainiero, Cabrera-Pérez, Rocío, Kostel Bal, Sevgi, Pfajfer, Laurène, Ransmayr, Bernhard, Mautner, Anna-Katharina, Kondo, Ryohei, Tinnacher, Anna, Caldera, Michael, Schuster, Michael, Domínguez Conde, Cecilia, Platzer, René, Salzer, Elisabeth, Boyer, Thomas, Brunner, Han, Nooitgedagt-Frons, Judith, Iglesias, Estíbaliz, Deyà-Martinez, Angela, Camacho-Lovillo, Marisol, Menche, Jörg, Bock, Christoph, Huppa, Johannes, Pickl, Winfried, Distel, Martin, Yoder, Jeffrey, Traver, David, Engelhardt, Karin, Linden, Tobias, Kager, Leo, Hannich, J. Thomas, Hoischen, Alexander, Hambleton, Sophie, Illsinger, Sabine, Da Costa, Lydie, Kutsche, Kerstin, Chavoshzadeh, Zahra, van Buul, Jaap, Antón, Jordi, Calzada-Hernández, Joan, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan

المساهمون: St. Anna Children’s Cancer Research Institute CCRI Vienna, Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna, Austria (CeMM), Austrian Academy of Sciences (OeAW), Institute for Hygiene and Applied Immunology, Medizinische Universität Wien = Medical University of Vienna, Université de Picardie Jules Verne (UPJV), HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Pathology Department Barcelona, Spain, Vall d'Hebron University Hospital Barcelona, Department of Gastroenterology, National Center for Geriatrics and Gerontology, 7-430 Morioka-cho Obu, Japan, Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Instituto Oswaldo Cruz = Oswaldo Cruz Institute Rio de Janeiro (IOC), Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Pasteur Network (Réseau International des Instituts Pasteur)-Pasteur Network (Réseau International des Instituts Pasteur), Universität des Saarlandes Saarbrücken = Saarland University Saarbrücken, University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Radboud University Medical Center Nijmegen (RadboudUMC), Saint Anna Children's Hospital Vienne = St Anna Kinderspital (St. Anna Children's Hospital), Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf Hamburg (UKE), Institute for the Health of Women and Children, Gothenburg Paediatric Growth Research Centre (GP-GRC, Shahid Beheshti University of Medical Sciences Tehran (SBUMS), Universitat de Barcelona (UB), Swammerdam Institute for Life Sciences (SILS), Amsterdam University Medical Centers (Amsterdam UMC), Maastricht University Medical Center+ (Maastricht UMC+), Slingeland Hospital, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu Barcelona, Spain, Ludwik Hirszfeld Institute of Immunology and Experimental therapy (LUDWIK HIRSZFELD INSTITUTE OF IMMUNOLOGY AND EXPERIMENTAL THERAPY), Polska Akademia Nauk = Polish Academy of Sciences = Académie polonaise des sciences (PAN), Hospital Sant Joan de Déu Barcelona, North Carolina State University Raleigh (NC State), University of North Carolina System (UNC), University of California San Diego (UC San Diego), University of California (UC), Newcastle University Newcastle, University of Oldenburg, Radboud University Nijmegen, Medizinische Hochschule Hannover = Hannover Medical School (MHH), Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital universitaire Robert Debré Reims (CHU Reims), Mofid Children's Hospital Téhéran, Iran, Institut des Maladies Métaboliques et Casdiovasculaires (UPS/Inserm U1297 - I2MC), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: ISSN: 0028-4793.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/37342957; PUBMED: 37342957

الاتاحة: https://inserm.hal.science/inserm-04792441
https://doi.org/10.1056/NEJMoa2210054

المؤلفون: Block, Jana, Rashkova, Christina, Castanon, Irinka, Platon, Jessica, Zoghi, Samaneh, Fujiwara, Mitsuhiro, Chaves, Beatriz, Schoppmeyer, Rouven, van der Made, Caspar, Cabrera-Perez, Rocio, Harms, Frederike Leonie, Ardy, Rico Chandra, Alavi, Samin, Alsina, Laia, Avila Polo, Rainiero, Sanchez Moreno, Paula, Jimenez Heredia, Raul, Hannich, Thomas, Huppa, Johannes, Distel, Martin, Pickl, Winfried, Yoder, Jeffrey, Traver, David, Engelhardt, Karin, Linden, Tobias, Kager, Leo, Hambleton, Sophie, Hoischen, Alexander, Illsinger, Sabine, Chavoshzadeh, Zahra, Kutsche, Kerstin, Da Costa, Lydie, van Buul, Jaap, Calzada-Hernandez, Joan, Anton, Jordi, Neth, Olaf, Viaud, Julien, Nishikimi, Akihiko, Dupré, Loïc, Boztug, Kaan

المساهمون: Research Unit Muscle Biology and Growth, Leibniz Institute for Farm Animal Biology (FBN), Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna, Austria (CeMM), Austrian Academy of Sciences (OeAW), Medizinische Universität Wien = Medical University of Vienna, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Amiens-Picardie, Institut Toulousain des Maladies Infectieuses et Inflammatoires (Infinity), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Instituto Oswaldo Cruz = Oswaldo Cruz Institute Rio de Janeiro (IOC), Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Pasteur Network (Réseau International des Instituts Pasteur)-Pasteur Network (Réseau International des Instituts Pasteur), Universität des Saarlandes Saarbrücken = Saarland University Saarbrücken, St. Anna Children’s Cancer Research Institute CCRI Vienna, Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), Institut des Maladies Métaboliques et Casdiovasculaires (UPS/Inserm U1297 - I2MC), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-11-LABX-0051,GR-Ex,Biogenèse et pathologies du globule rouge(2011)

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الاتاحة: https://u-picardie.hal.science/hal-04355408
https://doi.org/10.1182/blood-2023-172795

المؤلفون: Harms, Frederike L, Dingemans, Alexander J M, Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F, Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M S, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L, Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M, de Vries, Bert B A, Kutsche, Kerstin

المصدر: Harms , F L , Dingemans , A J M , Hempel , M , Pfundt , R , Bierhals , T , Casar , C , Müller , C , Niermeijer , J-M F , Fischer , J , Jahn , A , Hübner , C , Majore , S , Agolini , E , Novelli , A , van der Smagt , J , Ernst , R , van Binsbergen , E , Mancini , G M S , van Slegtenhorst , M , Barakat , T S , Wakeling , E L , Kamath , A ....

الاتاحة: https://pure.eur.nl/en/publications/1ad32a27-6deb-4247-91f1-ed32ec01007a
https://doi.org/10.1016/j.gim.2023.100927
http://www.scopus.com/inward/record.url?scp=85166912847&partnerID=8YFLogxK

المؤلفون: Harms, Frederike L., Weiss, Deike, Lisfeld, Jasmin, Alawi, Malik, Kutsche, Kerstin

المصدر: neurogenetics ; ISSN 1364-6753

الاتاحة: http://dx.doi.org/10.1007/s10048-023-00716-w
https://link.springer.com/content/pdf/10.1007/s10048-023-00716-w.pdf
https://link.springer.com/article/10.1007/s10048-023-00716-w/fulltext.html