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: Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/4ca8372a9ecd42798f65bafe5883ded4

المؤلفون: Svea Horn, Magdalena Danyel, Nina Erdmann, Felix Boschann, Cecilia Gunnarsson, Saskia Biskup, Jerome Juengling, Cornelia Potratz, Christine Prager, Angela M. Kaindl

المصدر: Frontiers in Neurology, Vol 13 (2023)

مصطلحات موضوعية: KPTN gene, macrocephaly, neurodevelopment delay, epilepsy, splice site variant, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1113811/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/a99bee8f55f24995aa90dec2bd17a2b6

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: Leonora Pietzsch, Julia Körholz, Felix Boschann, Mildred Sergon, Batsukh Dorjbal, Debra Yee, Vanessa Gilly, Eva Kämmerer, Diana Paul, Clemens Kastl, Martin W. Laass, Reinhard Berner, Eva Maria Jacobsen, Joachim Roesler, Daniela Aust, Min A. Lee-Kirsch, Andrew L. Snow, Catharina Schuetz

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: CARD11 deficiency, severe eczema, dupilumab, HPV driven carcinoma, anal carcinoma, mycosis fungoides, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.878989/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/487c8eb9c02344a7b43a10dc927e48f3

المؤلفون: Thomas Bernd Dschietzig, Karl-Heinz Kellner, Katrin Sasse, Felix Boschann, Robert Klüsener, Jana Ruppert, Franz Paul Armbruster, Dragic Bankovic, Andreas Meinitzer, Veselin Mitrovic, Christoph Melzer

المصدر: Kidney & Blood Pressure Research, Vol 44, Iss 4, Pp 765-776 (2019)

مصطلحات موضوعية: Heart failure, Biomarker, Mortality, Exercise, Tryptophan, Dermatology, RL1-803, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/501483; https://doaj.org/toc/1420-4096; https://doaj.org/toc/1423-0143

URL الوصول: https://doaj.org/article/b0f0aff49684458a903f24bf0de0afdc

المؤلفون: Julia Körholz, Anastasia Gabrielyan, John M. Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Kenneth G. C. Smith, Stefan Mundlos, Reinhard Berner, Alexander H. Dalpke, Catharina Schuetz, William Rae

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: inborn error of immunity (IEI), SOCS1, Hyper-IgE syndrome, autoimmunity, genetic pleiotropy, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.680334/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/157591a72b194f6cb40a244fa421e25e

المؤلفون: Alessandro Ferretti, Margherita Furlan, Kevin E. Glinton, Christina D. Fenger, Felix Boschann, Louise Amlie-Wolf, Shimriet Zeidler, Raffaella Moretti, Corinna Stoltenburg, Daniel C. Tarquinio, Francesca Furia, Pasquale Parisi, Guido Rubboli, Orrin Devinsky, Cyril Mignot, Karen W. Gripp, Rikke S. Møller, Yaping Yang, Pawel Stankiewicz, Elena Gardella

المساهمون: Ferretti, Alessandro, Furlan, Margherita, Glinton, Kevin E., Fenger, Christina D., Boschann, Felix, Amlie-Wolf, Louise, Zeidler, Shimriet, Moretti, Raffaella, Stoltenburg, Corinna, Tarquinio, Daniel C., Furia, Francesca, Parisi, Pasquale, Rubboli, Guido, Devinsky, Orrin, Mignot, Cyril, Gripp, Karen W., Møller, Rikke S., Yang, Yaping, Stankiewicz, Pawel, Gardella, Elena

مصطلحات موضوعية: Bromodomain PHD finger transcription factor gene, BPTF, Childhood epilepsy, Genetic epilepsy, Microcephaly, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalie, NEDDFL

Relation: volume:258; firstpage:17; lastpage:25; journal:PEDIATRIC NEUROLOGY; https://hdl.handle.net/11573/1713467

الاتاحة: https://hdl.handle.net/11573/1713467

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: Henrike L. Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B. Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G. Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann

مصطلحات موضوعية: Cancer Research, Genetics, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f4c30e125d8e7b4b33e25f77fcc089
http://edoc.mdc-berlin.de/23362/1/23362oa.pdf

المؤلفون: Lena‐Luise Becker, Denise Horn, Felix Boschann, Evelien Van Hoeymissen, Thomas Voets, Joris Vriens, Christine Prager, Angela M. Kaindl

مصطلحات موضوعية: Neurology, Neurology (clinical)

وصف الملف: Print-Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94d60835db1e77350a6d28564b3243ff
https://lirias.kuleuven.be/handle/20.500.12942/716846

المؤلفون: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M. Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C. Betz, Tim Bender, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Spier Isabel, Heimbach André, Bender Tim, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S. Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J. Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M. C. Schwaibold, Christian P. Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M. Okun, Urania Kotzaeridou, Georg F. Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S. Westphal, Tim Strom, Reka Kovacs, Korbinian M. Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Vill Katharina, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R. Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J. Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M. Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51d2fffa10e3858a273179e9636175f6
https://doi.org/10.1101/2023.04.19.23288824

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

المصدر: Journal of Human Genetics

مصطلحات موضوعية: Chromosome Aberrations, Male, Genes, X-Linked, Intellectual Disability, Infant, Newborn, Genetics, Humans, Genetic Diseases, X-Linked, Vocal Cord Paralysis, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f06b471bc1c0335941a2b9e68709b8
https://doi.org/10.1038/s10038-022-01018-z

المؤلفون: Evelien Van Hoeymissen, Lydie Burglen, 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. 12

مصطلحات موضوعية: neuroscience, General Immunology and Microbiology, General Neuroscience, cell biology, Medizin, human, General Medicine, General Biochemistry, Genetics and Molecular Biology

وصف الملف: Electronic; text

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42e2c95cd587f0963c7438e9615df07
https://doi.org/10.7554/elife.81032

المؤلفون: Svea Horn (14369424), Magdalena Danyel (6197306), Nina Erdmann (14137704), Felix Boschann (11234886), Cecilia Gunnarsson (317001), Saskia Biskup (40279), Jerome Juengling (14369427), Cornelia Potratz (14369430), Christine Prager (7172756), Angela M. Kaindl (7610579)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, KPTN gene, macrocephaly, neurodevelopment delay, epilepsy, splice site variant

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_Case_report_KPTN_gene-related_syndrome_associated_with_a_spectrum_of_neurodevelopmental_anomalies_including_severe_epilepsy_PDF/21855369

الاتاحة: https://doi.org/10.3389/fneur.2022.1113811.s001

المؤلفون: Evelien Van Hoeymissen, Lydie Burglen, 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51a93e755ca5d72fe220f290e73c236e
https://doi.org/10.7554/elife.81032.sa2

المؤلفون: Felix Boschann, Henrike Sczakiel, Max Zhao, Magdalena Danyel, Corinna Stoltenburg, Nadirah Damseh, Motee Ashhab, Tugce Balci, Kalene van Engelen, Matt Osmond, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarad, Atieh Eslahi, Behnaz Bakaeean, Reza Maroofian, Nadja Ehmke, Dominik Seelow, Denise Horn

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db841332032830bda691c701211d4d2a
https://doi.org/10.21203/rs.3.rs-2256298/v1

المؤلفون: Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato

المساهمون: Tan, Natalie B, Pagnamenta, Alistair T, Ferla, Matteo P, Gadian, Jonathan, Byrne, Alicia B, White, Sue, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Tan, N. B., Pagnamenta, A. T., Ferla, M. P., Gadian, J., Chung, B. H. Y., Chan, M. C. Y., Fung, J. L. F., Cook, E., Guter, S., Boschann, F., Heinen, A., Schallner, J., Mignot, C., Keren, B., Whalen, S., Sarret, C., Mittag, D., Demmer, L., Stapleton, R., Saida, K., Matsumoto, N., Miyake, N., Sheffer, R., Mor-Shaked, H., Barnett, C. P., Byrne, A. B., Scott, H. S., Kraus, A., Cappuccio, G., Brunetti Pierri, N., Iorio, R., Di Dato, F., Pais, L. S., Yeung, A., Tan, T. Y., Taylor, J. C., Christodoulou, J., White, S.

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩

مصطلحات موضوعية: medicine.medical_specialty, Genomics, Biology, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, GNB2, Intellectual disability, Genetics, medicine, Missense mutation, Gene, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, G-beta protein, medicine.disease, developmental delay, intellectual disability, Medical genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Human genome, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6b766cc9419af7689f1a0e5ddf2db6
https://doi.org/10.1136/jmedgenet-2020-107462

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

المصدر: Journal of Medical Genetics. 59:662-668

مصطلحات موضوعية: Genetics, Endosome, Postnatal microcephaly, Biology, medicine.disease, Neurodevelopmental disorder, Endosomal transport, Failure to thrive, Gene expression, medicine, medicine.symptom, Gene, Genetics (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::61979bd509a68506b156c6fe1d3a124e
https://doi.org/10.1136/jmedgenet-2021-107843

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

المصدر: GENETICS IN MEDICINE

مصطلحات موضوعية: Exome sequencing, Arthrogryposis, Contracture, Homozygote, Proteins, Disintegrin-Like, ADAMTS15, Pedigree, Consanguinity, Mice, ADAMTS Proteins, Phenotype, Mutation, Animals, Humans, Connective tissue, Distal arthrogryposis, Metalloproteinase Domain, Mutations, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce5cfdcd02c10f5284012283b2d2b4e0
https://pubmed.ncbi.nlm.nih.gov/35962790