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pro vyhledávání: '"Amram D."'
Akademický článek
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Autor:
Cafarelli A; BioRobotics InstituteScuola Superiore Sant'Anna 56127 Pisa Italy.; Department of Excellence in Robotics and AIScuola Superiore Sant'Anna 56127 Pisa Italy., Sorriento A; BioRobotics InstituteScuola Superiore Sant'Anna 56127 Pisa Italy.; Department of Excellence in Robotics and AIScuola Superiore Sant'Anna 56127 Pisa Italy., Marola G; BioRobotics InstituteScuola Superiore Sant'Anna 56127 Pisa Italy.; Department of Excellence in Robotics and AIScuola Superiore Sant'Anna 56127 Pisa Italy., Amram D; DIRPOLIS Institute L'EMbeDS Department of ExcellenceScuola Superiore Sant'Anna 56127 Pisa Italy., Rabusseau F; Image Guided Therapy (IGT) 33600 Pessac France., Locteau H; Image Guided Therapy (IGT) 33600 Pessac France., Cabras P; Image Guided Therapy (IGT) 33600 Pessac France., Dumont E; Image Guided Therapy (IGT) 33600 Pessac France., Nakhaei S; Hitech & Development Wireless Sweden AB (H&D Wireless) 164 51 Kista Sweden., Jernberger A; Hitech & Development Wireless Sweden AB (H&D Wireless) 164 51 Kista Sweden., Bergsten P; Hitech & Development Wireless Sweden AB (H&D Wireless) 164 51 Kista Sweden., Spinnato P; Diagnostic and Interventional RadiologyIRCCS Istituto Ortopedico Rizzoli 40136 Bologna Italy., Russo A; Clinica 2IRCCS Istituto Ortopedico Rizzoli 40136 Bologna Italy., Ricotti L; BioRobotics InstituteScuola Superiore Sant'Anna 56127 Pisa Italy.; Department of Excellence in Robotics and AIScuola Superiore Sant'Anna 56127 Pisa Italy.
Publikováno v:
IEEE open journal of engineering in medicine and biology [IEEE Open J Eng Med Biol] 2024 May 31; Vol. 5, pp. 476-484. Date of Electronic Publication: 2024 May 31 (Print Publication: 2024).
Autor:
Amram D; Université de Lyon, Université Claude Bernard Lyon 1, CNRS/IN2P3, IP2I Lyon, UMR 5822, Villeurbanne, France., Bouzoud K; SUBATECH, Nantes Université, IMT Atlantique, IN2P3/CNRS, 4 rue Alfred Kastler, La Chantrerie BP 20722, 44307 Nantes, France., Chanon N; Université de Lyon, Université Claude Bernard Lyon 1, CNRS/IN2P3, IP2I Lyon, UMR 5822, Villeurbanne, France., Hansen H; Université de Lyon, Université Claude Bernard Lyon 1, CNRS/IN2P3, IP2I Lyon, UMR 5822, Villeurbanne, France., Ribeiro MR; Instituto de Física, Universidade de São Paulo, Cidade Universitária, São Paulo (SP), 05508-090, Brazil., Schreck M; Departamento de Física, Universidade Federal do Maranhão, Campus Universitário do Bacanga, São Luís (MA), 65085-580, Brazil.
Publikováno v:
Physical review letters [Phys Rev Lett] 2024 May 24; Vol. 132 (21), pp. 211801.
Autor:
Jedraszak G; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France.; UR4666, University of Picardy Jules Verne, Amiens, France., Jobic F; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France., Receveur A; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France., Bilan F; Genetics Laboratory, University Hospital of Poitiers, Poitiers, France., Gilbert-Dussardier B; Medical Genetics Unit, University Hospital of Poitiers, Poitiers, France., Tiffany B; Medical Genetics Unit, University Hospital of Marseille, Marseille, France., Missirian C; Cytogenetics Laboratory, University Hospital of Marseille, Marseille, France., Willems M; Medical Genetics Laboratory, University Hospital of Montpellier, Montpellier, France., Odent S; Medical Genetics Unit, University Hospital of Rennes, Rennes, France., Lucas J; Genetics Laboratory, University Hospital of Rennes, Rennes, France., Dubourg C; Molecular & Genomic Institute, Rennes, France., Schaefer E; Clinical Genetics Unit, University Hospital of Strasbourg, Strasbourg, France., Scheidecker S; Medical Genetics Laboratory & INSERM U1112, Strasbourg, France., Lespinasse J; Clinical Genetics Unit, Hospital of Chambéry, Chambéry, France., Goldenberg A; Clinical Genetics Unit, University Hospital of Rouen, Rouen, France., Guerrot AM; Clinical Genetics Unit, University Hospital of Rouen, Rouen, France., Joly-Helas G; Cytogenetics Laboratory, University Hospital of Rouen, Rouen, France., Chambon P; Cytogenetics Laboratory, University Hospital of Rouen, Rouen, France., Le Caignec C; Medical Gentics Unit, University Hospital of Toulouse, Toulouse, France., David A; Clinical Genetics Unit, University Hospital of Nantes, Nantes, France., Coutton C; Cytogenetics Laboratory, University Hospital of Grenoble & INSERM U1209 Institute for Advanced Biosciences, University of Grenoble Alpes, Grenoble, France., Satre V; Cytogenetics Laboratory, University Hospital of Grenoble & INSERM U1209 Institute for Advanced Biosciences, University of Grenoble Alpes, Grenoble, France., Vieville G; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France., Amblard F; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France., Harbuz R; Cytogenetics Laboratory, University Hospital of Grenoble, Grenoble, France., Sanlaville D; Cytogenetics Laboratory, University Hospital of Lyon, Bron, France., Till M; Cytogenetics Laboratory, University Hospital of Lyon, Bron, France., Vincent-Delorme C; Catherine Vincent Delorme, Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, Lille, France., Colson C; Catherine Vincent Delorme, Clinical Genetics Unit Guy Fontaine, University Hospital of Lille, Lille, France., Andrieux J; Molecular Genetics Institute, University hospital of Lille, Lille, France., Naudion S; Clinical Genetics Unit, University Hospital of Bordeaux, Bordeaux, France., Toutain J; Clinical Genetics Unit, University Hospital of Bordeaux, Bordeaux, France., Rooryck C; Medical Genetics Laboratory, University Hospital of Bordeaux, Bordeaux, France., de Fréminville B; Genetics Laboratory, University Hospital of Saint-Etienne, Saint-Etienne, France., Prieur F; Medical Genetics Unit, University Hospital of Saint-Etienne, Saint Etienne, France., Daire VC; Medical Genetics Federation, Necker-Children's Hospital, Paris, France., Amram D; Clinicial Genetics Unit, University Hospital of Creteil, Creteil, France., Kleinfinger P; Cerba Laboratory, Saint-Ouen, France., Raabe-Meyer G; Praxis für Humangenetik Dr. Schulze, Hannover, Germany., Courage C; Folkhälsan Research Center, Helsinki, Finland., Lemke J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Stefanou EG; Cytogenetics Unit, Laboratory of Medical Genetics, University General Hospital of Patras, Patras, Greece., Loretta T; Developmental Assessment Unit, National and Kapodistrian University of Athens, Athens, Greece., Emmanouil M; ATG Genetic Center, Athens, Greece., Tzeli SK; Department of Medical Genetics, National and Kapodistrian University of Athens, Athens, Greece., Sodowska H; Niepubliczny Zakład Opieki Zdrowotne 'Genom', Ruda Slaska, Poland., Anderson J; Cytogenetics Department, Sullivan and Nicolaides Pathology, Taringa, Queensland, Australia., Nandini A; Department of Cytogenetics, Royal Brisbane and Women's Hospital, Brisbane, Australia., Copin H; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France., Garçon L; Constitutional Genetics Laboratory, University Hospital of Amiens, Amiens, France.; UR4666, University of Picardy Jules Verne, Amiens, France., Liehr T; Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany., Morin G; Clinical Genetics Unit, University Hospital of Amiens, Amiens, France.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63476. Date of Electronic Publication: 2023 Nov 16.
Autor:
Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.
Publikováno v:
Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018
https://doi.org/10.1016/j.gim.2023.100018
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Publikováno v:
In Acta Materialia 1 January 2015 82:145-154