المؤلفون: Sairam Behera, Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh H. Nguyen, Emma Newman, Medhat Mahmoud, Vipin K. Menon, Qibin Qi, Parag Joshi, Santica Marcovina, Massimiliano Rossi, Eric Roller, James Han, Vitor Onuchic, Christy L. Avery, Christie M. Ballantyne, Carlos J. Rodriguez, Robert C. Kaplan, Donna M. Muzny, Ginger A. Metcalf, Richard A. Gibbs, Bing Yu, Eric Boerwinkle, Michael A. Eberle, Fritz J. Sedlazeck

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-15 (2024)

مصطلحات موضوعية: LPA, Copy number variation, Cardiovascular disease, Next Generation Sequencing, Illumina, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/b08e11c0c6a64b4e840870232441e2bd

المؤلفون: Raphael O. Betschart, Georgios Koliopanos, Paras Garg, Linlin Guo, Massimiliano Rossi, Sebastian Schönherr, Stefan Blankenberg, Raphael Twerenbold, Tanja Zeller, Andreas Ziegler

المصدر: BioMed, Vol 4, Iss 2, Pp 156-170 (2024)

مصطلحات موضوعية: genome-wide association study, lipoprotein(a), Kringle IV-2 repeat, KIV-2, short tandem repeat, whole genome sequencing, Biotechnology, TP248.13-248.65, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-8430/4/2/13; https://doaj.org/toc/2673-8430

URL الوصول: https://doaj.org/article/eae19d1bb2fb406588c1f6e9d0e74c4e

المؤلفون: Eric Bonvin, Louisiane Devaud, Massimiliano Rossi, Andrei Militaru, Lorenzo Dania, Dmitry S. Bykov, Markus Teller, Tracy E. Northup, Lukas Novotny, Martin Frimmer

المصدر: Physical Review Research, Vol 6, Iss 4, p 043129 (2024)

مصطلحات موضوعية: Physics, QC1-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2643-1564

URL الوصول: https://doaj.org/article/f1437d65f4fb4ac5b9faed982bdfaae6

المؤلفون: Jessica Zampolli, Alessandra De Giani, Massimiliano Rossi, Margherita Finazzi, Patrizia Di Gennaro

المصدر: Frontiers in Microbiology, Vol 15 (2024)

مصطلحات موضوعية: microbiomes, microbial community, human health, human microbiota, environmental niches, omic approaches, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmicb.2024.1380953/full; https://doaj.org/toc/1664-302X

URL الوصول: https://doaj.org/article/458ce51290e2495690c2462918be77a9

المؤلفون: Massimiliano Rossi, Marco Frasca

المصدر: Vibration, Vol 6, Iss 3, Pp 466-476 (2023)

مصطلحات موضوعية: ultrasound, time-expansion, DAC, Physics, QC1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2571-631X/6/3/29; https://doaj.org/toc/2571-631X

URL الوصول: https://doaj.org/article/57042982dab040fb92194789d45c7cfa

المؤلفون: Christian A. Rosiek, Massimiliano Rossi, Albert Schliesser, Anders S. Sørensen

المصدر: PRX Quantum, Vol 5, Iss 3, p 030312 (2024)

مصطلحات موضوعية: Physics, QC1-999, Computer software, QA76.75-76.765

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2691-3399

URL الوصول: https://doaj.org/article/b2dfeb3c0184448db448592ff49bcd60

المؤلفون: Omar Y. Ahmed, Massimiliano Rossi, Travis Gagie, Christina Boucher, Ben Langmead

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Pangenome, Indexing, Classification, Minimizer, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/beed168329644a80b28abeb68de43d92

المؤلفون: Filippo Azzini, Beatrice Pulvirenti, Massimiliano Rossi, Gian Luca Morini

المصدر: Micromachines, Vol 15, Iss 3, p 339 (2024)

مصطلحات موضوعية: two-phase flow, OpenFOAM, droplet simulation, micro-junction, Mechanical engineering and machinery, TJ1-1570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-666X/15/3/339; https://doaj.org/toc/2072-666X

URL الوصول: https://doaj.org/article/3c59cdb8a4804c30bf4a77a196277702

المؤلفون: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

المصدر: Frontiers in Physiology, Vol 14 (2023)

مصطلحات موضوعية: enamel, amelogenesis imperfecta, genetics, rare diseases, NGS, next-generation sequencing, Physiology, QP1-981

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2023.1130175/full; https://doaj.org/toc/1664-042X

URL الوصول: https://doaj.org/article/be19745ebc994351a79834498f898534

المؤلفون: Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

مصطلحات موضوعية: Rare disease, Developmental disorders, Data warehouse, Epidemiology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/216dd0ccc9184791b1c6f53a91e40c0a

المؤلفون: Christophe GAULD, Alice POISSON, Julie REVERSAT, Elodie PEYROUX, Françoise HOUDAYER-ROBERT, Massimiliano ROSSI, Gaetan LESCA, Damien SANLAVILLE, Caroline DEMILY

المصدر: BMC Psychiatry, Vol 21, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Autism Spectrum disorder, Erotomania, Persistent delusional disorders, Intellectual deficiency, Phenotypic gradient, AUTS2, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-244X

URL الوصول: https://doaj.org/article/e46caa96fbbc4e0ab58e7ad30e9a30ff

المؤلفون: Kingshuk Mukherjee, Massimiliano Rossi, Leena Salmela, Christina Boucher

المصدر: Algorithms for Molecular Biology, Vol 16, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Optical mapping, Single molecule maps, de Bruijn graph, Overlap-layout-consensus, Genome assembly, Mis-assemblies, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1748-7188

URL الوصول: https://doaj.org/article/80b0f04e524b408baa746d115960e3ca

المؤلفون: Michael A. Page, Maxim Goryachev, Haixing Miao, Yanbei Chen, Yiqiu Ma, David Mason, Massimiliano Rossi, Carl D. Blair, Li Ju, David G. Blair, Albert Schliesser, Michael E. Tobar, Chunnong Zhao

المصدر: Communications Physics, Vol 4, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Astrophysics, QB460-466, Physics, QC1-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2399-3650

URL الوصول: https://doaj.org/article/f2a2419e386a4421bed5dcd4827bf8fa

المؤلفون: Marco Frasca, Riccardo Maria Liberati, Massimiliano Rossi

المصدر: Physics, Vol 2, Iss 4, Pp 665-678 (2020)

مصطلحات موضوعية: general relativity, Schwarzschild solution, warp factor, Physics, QC1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2624-8174/2/4/39; https://doaj.org/toc/2624-8174

URL الوصول: https://doaj.org/article/2529180956c64231bb6e100d43cce501

المؤلفون: Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, on behalf of ERN ITHACA

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: European reference network, Developmental disorders, Telemedicine, Rare disease, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-1349-1; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/d1bebb0fda4546c08ace4997751a80ac

المؤلفون: Ravi Savarirayan, Josep Maria De Bergua, Paul Arundel, Helen McDevitt, Valerie Cormier-Daire, Vrinda Saraff, Mars Skae, Borja Delgado, Antonio Leiva-Gea, Fernando Santos-Simarro, Jean Pierre Salles, Marc Nicolino, Massimiliano Rossi, Peter Kannu, Michael B. Bober, John Phillips, Howard Saal, Paul Harmatz, Christine Burren, Garrett Gotway, Terry Cho, Elena Muslimova, Richard Weng, Daniela Rogoff, Julie Hoover-Fong, Melita Irving

المصدر: Therapeutic Advances in Musculoskeletal Disease, Vol 14 (2022)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1759-7218

URL الوصول: https://doaj.org/article/1c346c9389564e0d8a57401f2309d651

المؤلفون: Junxin Chen, Massimiliano Rossi, David Mason, Albert Schliesser

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/28001fa49c1847179d50f01b69335bec

المؤلفون: Riccardo Maria Liberati, Alessio Del Paggio, Massimiliano Rossi

المصدر: Physics, Vol 1, Iss 3, Pp 360-374 (2019)

مصطلحات موضوعية: infrared radiation, photodetector, black body, Physics, QC1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2624-8174/1/3/26; https://doaj.org/toc/2624-8174

URL الوصول: https://doaj.org/article/8d623cd31ad945519a450c908912b50c

المؤلفون: Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-6 (2019)

مصطلحات موضوعية: Autism Spectrum Disorder, Williams Beuren syndrome, 7q11.23 microdeletion, GTF2I, Whole exome sequencing, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1094-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/11f492c26ac74b05ad0d3a1140c45abd

المؤلفون: Behrouz Kassai, Philippe Bouyé, Brigitte Gilbert-Dussardier, François Godart, Jean-Benoit Thambo, Massimiliano Rossi, Pierre Cochat, Pierre Chirossel, Stephane Luong, André Serusclat, Isabelle Canterino, Catherine Mercier, Muriel Rabilloud, Christine Pivot, Fabrice Pirot, Tiphanie Ginhoux, Stéphanie Coopman, Guillaume Grenet, François Gueyffier, Sylvie Di-Fillippo, Aurélia Bertholet-Thomas

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Children, Randomized Controlled Trials, Rare Disease, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12887-019-1544-1; https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/13393c5d8f8d45d48755e9b136fa449a