المؤلفون: Alex V. Postma, Christina K. Rapp, Katrin Knoflach, Alexander E. Volk, Johannes R. Lemke, Maximilian Ackermann, Nicolas Regamey, Philipp Latzin, Lucas Celant, Samara M.A. Jansen, Harm J. Bogaard, Aho Ilgun, Mariëlle Alders, Karin Y. van Spaendonck-Zwarts, Danny Jonigk, Christoph Klein, Stefan Gräf, Christian Kubisch, Arjan C. Houweling, Matthias Griese

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100811- (2023)

مصطلحات موضوعية: Angiogenesis, Calpain, CAPNS1, Pulmonary arterial hypertension, Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423008208Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/dc7a871eb18547b29046bbf552c654c5Test

المؤلفون: Xiaohua Yang, Maria Forstner, Christina K. Rapp, Ina Rothenaigner, Yang Li, Kamyar Hadian, Matthias Griese

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 8179

مصطلحات موضوعية: ATP-binding cassette subfamily A member 3, ABCA3, interstitial lung disease, ILD, hydroxychloroquine, HCQ, diffuse parenchymal lung disease, chILD, childhood interstitial lung disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms24098179Test

الإتاحة: https://doi.org/10.3390/ijms24098179Test

المؤلفون: Xiaohua Yang, Christina K. Rapp, Yang Li, Maria Forstner, Matthias Griese

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 8; Pages: 7554

مصطلحات موضوعية: ATP-binding cassette subfamily A member 3, ABCA3, trafficking, pumping, function, subgroups, phosphatidylcholine, interstitial lung disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24087554Test

الإتاحة: https://doi.org/10.3390/ijms24087554Test

المؤلفون: Christina K. Rapp, Florian Gothe, Klaus Magdorf, Michael Barker, Bettina Temmesfeld-Wollbrück, Mirjam Stahl, Matthias Griese

المصدر: Klinische Pädiatrie.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::12e6cc60e7ac23605a3a760a653dad37Test
https://doi.org/10.1055/s-0043-1761554Test

المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson

مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value

العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test

الإتاحة: https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test

المؤلفون: Florent Delhommel, Michael Gerstlauer, Maximilian Hastreiter, Maria Forstner, Meino Rohlfs, Tim Jeske, Christina K Rapp, Alba Torrent-Vernetta, Antonio Moreno-Galdó, Birgit Kammer, Nagehan Emiralioglu, Marisa I. Mendes, Yang Li, Michael Sattler, Desirée E.C. Smith, Diclehan Orhan, Matthias Griese, Luise A. Schuch, Frank Brasch, Nural Kiper, Simone Reu-Hofer, Ekim Z. Taskiran

المساهمون: Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms

المصدر: Clinical Genetics, 99(6), 789-801. Wiley-Blackwell
Schuch, L A, Forstner, M, Rapp, C K, Li, Y, Smith, D E C, Mendes, M I, Delhommel, F, Sattler, M, Emiralioğlu, N, Taskiran, E Z, Orhan, D, Kiper, N, Rohlfs, M, Jeske, T, Hastreiter, M, Gerstlauer, M, Torrent-Vernetta, A, Moreno-Galdó, A, Kammer, B, Brasch, F, Reu-Hofer, S & Griese, M 2021, ' FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes : Look beyond the lungs! ', Clinical Genetics, vol. 99, no. 6, pp. 789-801 . https://doi.org/10.1111/cge.13943Test

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Genes, Recessive, Aminoacylation, 030105 genetics & heredity, Biology, 03 medical and health sciences, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Genetics, Protein biosynthesis, Humans, Missense mutation, ddc:610, Allele, Child, Lung, Gene, Alleles, Genetics (clinical), G alpha subunit, Aminoacyl tRNA synthetase, Infant, Newborn, Infant, Translation (biology), Pedigree, ddc, Phenotype, 030104 developmental biology, chemistry, Child, Preschool, Mutation, Female, Phenylalanine-tRNA Ligase, Lung Diseases, Interstitial

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f5fab26fa1d0a162b6e323085ef2387Test
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85101856190&origin=inwardTest

المؤلفون: Alba Torrent-Vernetta, Antonio Moreno-Galdó, Mónica Fernández-Cancio, Álvaro Gimeno Díaz de Atauri, Mirella Gaboli, Ana Díez Izquierdo, Pilar Caro Aguilera, Valle Velasco Gonzalez, Alexandra Navarro, Elisa María Canino Calderín, Silvia Castillo-Corullón, Rosario Carmona, Carlos Martín de Vicente, Alfredo Valenzuela Soria, María Ángeles Villar Álvarez, Javier Torres-Borrego, Pedro Mondejar-Lopez, Jordi Costa-Colomer, Verónica Sanz Santiago, Joaquín Dopazo, Borja Osona, Silvia Gartner, María Dolores Pastor-Vivero, Sara Bellon Alonso, Inés de Mir Messa, Noelia Baz-Redón, Roser Ayats, Ignacio Iglesias Serrano, Olga de la Serna-Blázquez, Sandra Rovira-Amigo, Jose Domingo Moure Gonzalez, Núria Camats-Tarruella, Christina K Rapp, Matthias Griese

المساهمون: Sociedad Española de Neumología Pediátrica, European Commission, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Torrent-Vernetta, Alba, Gaboli, Mirella, Castillo-Corullón, Silvia, Mondéjar-López, Pedro, Sanz Santiago, Verónica, Costa-Colomer, Jordi, Osona, Borja, Bellón Alonso, Sara, Caro Aguilera, Pilar, Gimeno-Díaz de Atauri, Álvaro, Ayats, Roser, Canino Calderín, Elisa María0000-0002-6452-7843, Pastor, María Dolores, Rovira-Amigo, Sandra, Iglesias Serrano, Ignacio, Díez Izquierdo, Ana, Mir Messa, Inés de, Gartner, Silvia, Baz-Redón, Noelia, Carmona, Rosario, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Rapp, Christina, Dopazo, Joaquín, Griese, Matthias, Moreno-Galdó, Antonio

المصدر: ARCHIVOS DE BRONCONEUMOLOGIA
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Consejo Superior de Investigaciones Científicas (CSIC)

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pediatrics, chILD, Childhood interstitial lung disease, Neumopatías intersticiales en pediatría, Scleroderma, 03 medical and health sciences, 0302 clinical medicine, Epidemiology, medicine, Prospective cohort study, Children, Children's Interstitial Lung disease, Niños, Lung, business.industry, Incidence (epidemiology), Pediatría, Enfermedades difusas del parénquima pulmonar en pediatría, Paediatrics, medicine.disease, medicine.anatomical_structure, 030228 respiratory system, Idiopathic pulmonary haemosiderosis, Observational study, business, Hypersensitivity pneumonitis, Enfermedad pulmonar intersticial infantil, Diffuse lung disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66d7487d51ee88d5f95cd68248382927Test
http://hdl.handle.net/10261/306409Test

المؤلفون: Matthias Griese, Peter N Robinson, Julia Carlens, Nagehan Emiralioglu, Nicolaus Schwerk, Nural Kiper, Elias Seidl, Martin Wetzke, Christina K Rapp, Katrin Knoflach, Astrid Madsen Ring, Frederik Buchvald

المصدر: Rare ILD / DPLD.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Medicine, Pulmonary hemorrhage, Disease, business, medicine.disease, Intensive care medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8e2832aa9e0685e36fe85bfbef5a02c0Test
https://doi.org/10.1183/13993003.congress-2021.oa4237Test

المؤلفون: Alba Torrent Vernetta, Jordi Costa-Colomer, Álvaro Gimeno Díaz de Atauri, Roser Ayats, Carlos Martín de Vicente, Matthias Griese, Olga de la Serna Blázquez, Mirella Gaboli, Sara Bellon Alonso, Pilar Caro Aguilera, Valle Velasco Gonzalez, Alfredo Valenzuela Soria, Javier Torres-Borrego, Pedro Mondejar-Lopez, Borja Osona, Verónica Sanz Santiago, Silvia Castillo-Corullón, Ana Díez Isquierdo, Antonio Moreno-Galdó, Sandra Rovira-Amigo, Jose Domingo Moure Gonzalez, Christina K Rapp, Ignacio Iglesias Serrano

المصدر: Paediatric bronchology.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Incidence (epidemiology), Diffuse lung disease, Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::31c8b9d759c6170367e50bf040cd5038Test
https://doi.org/10.1183/13993003.congress-2021.oa4073Test

المؤلفون: Jonathan Gehrig, Christina K Rapp, Nicolaus Schwerk, Florian Länger, Dirk Schramm, Stephan Ehl, Julia Ley-Zaporozhan, Matthias Griese, Simone Reu-Hofer, Florian Gothe, Laura Faletti, Katrin Knoflach

المصدر: Pediatric pulmonologyREFERENCES. 56(12)

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, STAT3 Transcription Factor, Pathology, medicine.medical_specialty, Autoimmunity, Disease, medicine.disease_cause, STAT3 GOF, Immunity, Exome Sequencing, medicine, Humans, Allele, Age of Onset, Lung, Exome sequencing, business.industry, Interstitial lung disease, Infant, Newborn, Infant, medicine.disease, Phenotype, Child, Preschool, Gain of Function Mutation, Pediatrics, Perinatology and Child Health, business, Lung Diseases, Interstitial

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb53486b6974c086bd807c5d7a302623Test
https://pubmed.ncbi.nlm.nih.gov/34549903Test