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1دورية أكاديمية
المؤلفون: Cannova, Silvia, Meossi, Camilla, Grilli, Federico, Milani, Donatella, Alberti, Federica, Cesaretti, Claudia, Marchisio, Paola Giovanna, Crosti, Francesca, Pezzani, Lidia
المساهمون: S. Cannova, C. Meossi, F. Grilli, D. Milani, F. Alberti, C. Cesaretti, P.G. Marchisio, F. Crosti, L. Pezzani
مصطلحات موضوعية: CATSHL syndrome, FGFR3, LADD syndrome, camptodactyly, deafne, overgrowth, scoliosis, Settore MED/38 - Pediatria Generale e Specialistica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37990933; info:eu-repo/semantics/altIdentifier/wos/WOS:001109253300001; volume:105; issue:3; firstpage:313; lastpage:316; numberofpages:4; journal:CLINICAL GENETICS; https://hdl.handle.net/2434/1022893Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85177554891
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2دورية أكاديمية
المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda, Sun, Jia-Hui, Ge, Yu-Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura, Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe, Pedersen, Miriam, Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa, Sully, Krystal, Murali, Chaya, Burrage, Lindsay, Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, Mcniven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Zeev, Bruria Ben, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke, Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes, Shi, Yun Stone, Kristensen, Anders
المساهمون: Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut du Thorax Nantes, Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Laboratoires de neurosciences intégratives et cliniques (EA 481), Université Bourgogne Franche-Comté COMUE (UBFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté COMUE (UBFC)-Université Bourgogne Franche-Comté COMUE (UBFC), Pathophysiologie et génétique du neurone et du muscle (PGNM), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), University of Copenhagen = Københavns Universitet (UCPH), AB (Allan Bayat) is funded by Novo Nordisk Foundation BRIDGE Programme (NNF20SA0064340). JHS (Jia-Hui Sun) is supported by the National Natural ScienceFoundation of China (32200779). The research conducted at the Murdoch Children's Research Institute (MCRI) was supported by the Victorian Government's Operational InfrastructureSupport Program. The Royal Children’s Hospital Foundation generously supports the Chair in Genomic Medicine awarded to JC. LCB (Lindsay Catherine Burrage) is supported by NIH (5U54OD030165). YSS (Yun Stone Shi) is supported by the National Key R & D Program of China (2019YFA0801603), the National Natural Science Foundation of China (32170951), the Fundamental Research Funds for the Central Universities (021414380533) and Special Fund for Science and Technology Innovation Strategy of Guangdong Province (2021B0909050004). ASK (Anders Skov Kristensen) is supported by Independent Research Fund Denmark (3101-00386B).
المصدر: ISSN: 0006-8950.
مصطلحات موضوعية: AMPA receptor, GRIA, GRIA3, clinical biomarker, genotype-phenotype, [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38038360; hal-04386909; https://univ-rennes.hal.science/hal-04386909Test; https://univ-rennes.hal.science/hal-04386909/documentTest; https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest; PUBMED: 38038360
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://univ-rennes.hal.science/hal-04386909Test
https://univ-rennes.hal.science/hal-04386909/documentTest
https://univ-rennes.hal.science/hal-04386909/file/Rinaldi%20et%20al-2023-Gain-of-function%20and%20loss-of-function%20variants%20in%20GRIA3%20lead%20to%20distinct%20neurodevelopmental%20phenotypes.pdfTest -
3دورية أكاديمية
المؤلفون: Cannova, Silvia, Meossi, Camilla, Grilli, Federico, Milani, Donatella, Alberti, Federica, Cesaretti, Claudia, Marchisio, Paola Giovanna, Crosti, Francesca, Pezzani, Lidia
المصدر: Clinical Genetics ; volume 105, issue 3, page 313-316 ; ISSN 0009-9163 1399-0004
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4دورية أكاديمية
المؤلفون: Tritto, Viviana, Grilli, Federico, Milani, Donatella, Riva, Paola
المساهمون: Ministero della Salute, Università degli Studi di Milano
المصدر: neurogenetics ; ISSN 1364-6753
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Genetics (clinical), Genetics
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5دورية أكاديمية
المؤلفون: Rinaldi, Berardo, Bayat, Allan, Zachariassen, Linda G., Sun, Jia Hui, Ge, Yu Han, Zhao, Dan, Bonde, Kristine, Madsen, Laura H., Awad, Ilham Abdimunim Ali, Bagiran, Duygu, Sbeih, Amal, Shah, Syeda Maidah, El-Sayed, Shaymaa, Lyngby, Signe M., Pedersen, Miriam G., Stenum-Berg, Charlotte, Walker, Louise Claudia, Krey, Ilona, Delahaye-Duriez, Andrée, Emrick, Lisa T., Sully, Krystal, Murali, Chaya N., Burrage, Lindsay C., Plaud Gonzalez, Julie Ana, Parnes, Mered, Friedman, Jennifer, Isidor, Bertrand, Lefranc, Jérémie, Redon, Sylvia, Heron, Delphine, Mignot, Cyril, Keren, Boris, Fradin, Mélanie, Dubourg, Christele, Mercier, Sandra, Besnard, Thomas, Cogne, Benjamin, Deb, Wallid, Rivier, Clotilde, Milani, Donatella, Bedeschi, Maria Francesca, Di Napoli, Claudia, Grilli, Federico, Marchisio, Paola, Koudijs, Suzanna, Veenma, Danielle, Argilli, Emanuela, Lynch, Sally Ann, Au, Ping Yee Billie, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Patron Romero, Leslie, Li, Wenhui Laura, Thorpe, Erin, Hecher, Laura, Johannsen, Jessika, Denecke, Jonas, McNiven, Vanda, Szuto, Anna, Wakeling, Emma, Cruz, Vincent, Sency, Valerie, Wang, Heng, Piard, Juliette, Kortüm, Fanny, Herget, Theresia, Bierhals, Tatjana, Condell, Angelo, Ben-Zeev, Bruria, Kaur, Simranpreet, Christodoulou, John, Piton, Amelie, Zweier, Christiane, Kraus, Cornelia, Micalizzi, Alessia, Trivisano, Marina, Specchio, Nicola, Lesca, Gaetan, Møller, Rikke S., Tümer, Zeynep, Musgaard, Maria, Gerard, Benedicte, Lemke, Johannes R., Shi, Yun Stone, Kristensen, Anders S.
المصدر: Rinaldi , B , Bayat , A , Zachariassen , L G , Sun , J H , Ge , Y H , Zhao , D , Bonde , K , Madsen , L H , Awad , I A A , Bagiran , D , Sbeih , A , Shah , S M , El-Sayed , S , Lyngby , S M , Pedersen , M G , Stenum-Berg , C , Walker , L C , Krey , I , Delahaye-Duriez , A , Emrick , L T , Sully , K , Murali , C N ....
الإتاحة: https://doi.org/10.1093/brain/awad403Test
https://pure.eur.nl/en/publications/d8f07fae-d289-416a-95eb-d6afb33abf5eTest
http://www.scopus.com/inward/record.url?scp=85192220050&partnerID=8YFLogxKTest -
6دورية أكاديمية
المؤلفون: Nassisi, Marco, Mainetti, Claudia, Sperti, Andrea, Galmozzi, Guido, Aretti, Andrea, Leone, Gaia, Nicotra, Valeria, Grilli, Federico, Rinaldi, Berardo, Natacci, Federica, Bedeschi, Maria Francesca, Viola, Francesco
المصدر: Graefe's Archive of Clinical & Experimental Ophthalmology; Apr2024, Vol. 262 Issue 4, p1131-1140, 10p
مصطلحات موضوعية: OPTICAL coherence tomography, WILLIAMS syndrome, ANGIOGRAPHY
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7دورية أكاديمية
المؤلفون: Castronovo, Paola, Aleo, Sebastiano, Seresini, Agostino, Grilli, Federico, Brunati, Emilio, Marchisio, Paola, Guez, Sophie, Milani, Donatella
المساهمون: P. Castronovo, S. Aleo, A. Seresini, F. Grilli, E. Brunati, P. Marchisio, S. Guez, D. Milani
مصطلحات موضوعية: Ehlers–Danlos syndrome, FKBP14, case report, scoliosis, Settore MED/38 - Pediatria Generale e Specialistica
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36553464; info:eu-repo/semantics/altIdentifier/wos/WOS:000901076600001; volume:13; issue:12; firstpage:1; lastpage:7; numberofpages:7; journal:GENES; https://hdl.handle.net/2434/950246Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144505522
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8دورية أكاديمية
المؤلفون: Moresco, Giada, Costanza, Jole, Santaniello, Carlo, Rondinone, Ornella, Grilli, Federico, Prada, Elisabetta, Orcesi, Simona, Coro, Ilaria, Pichiecchio, Anna, Marchisio, Paola, Miozzo, Monica, Fontana, Laura, Milani, Donatella
المساهمون: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
المصدر: Italian Journal of Pediatrics ; volume 47, issue 1 ; ISSN 1824-7288
مصطلحات موضوعية: General Medicine
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9دورية أكاديمية
المؤلفون: Nassisi, Marco, Mainetti, Claudia, Sperti, Andrea, Galmozzi, Guido, Aretti, Andrea, Leone, Gaia, Nicotra, Valeria, Grilli, Federico, Rinaldi, Berardo, Natacci, Federica, Bedeschi, Maria Francesca, Viola, Francesco
المساهمون: Ministero della Salute
المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology ; ISSN 0721-832X 1435-702X
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Sensory Systems, Ophthalmology
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10دورية أكاديمية
المؤلفون: MASERATI, EMANUELA, VALLI, ROBERTO, Nacci, Lucia, FRATTINI, ANNALISA, Grilli, Federico, PASQUALI, FRANCESCO
المساهمون: Maserati, Emanuela, Valli, Roberto, Nacci, Lucia, Frattini, Annalisa, Grilli, Federico, Pasquali, Francesco
مصطلحات موضوعية: Shwchaman Diamond Syndrome, i(7q), del(20), MDS, AML
وصف الملف: ELETTRONICO
العلاقة: 11th European cytogenetics Conference; volume:10; issue:1; firstpage:11; lastpage:11; numberofpages:1; journal:MOLECULAR CYTOGENETICS; http://hdl.handle.net/11383/2063836Test