المؤلفون: Carapancea, Evelina, Cornet, Marie-Coralie, Milh, Mathieu, De Cosmo, Lucrezia, Huang, Eric J, Granata, Tiziana, Striano, Pasquale, Ceulemans, Berten, Stein, Anja, Morris-Rosendahl, Deborah, Conti, Greta, Mitra, Nipa, Raymond, F Lucy, Rowitch, David H, Solazzi, Roberta, Vercellino, Fabiana, De Liso, Paola, D'Onofrio, Gianluca, Boniver, Clementina, Danhaive, Olivier, Carkeek, Katherine, Salpietro, Vincenzo, Weckhuysen, Sarah, Fedrigo, Marny, Angelini, Annalisa, Castellotti, Barbara, Lederer, Damien, Benoit, Valerie, Raviglione, Federico, Guerrini, Renzo, Dilena, Robertino, Cilio, Maria Roberta

المصدر: Neurology. 100(12)

مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Neurosciences, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Clinical Research, Brain Disorders, Neurodegenerative, Infant Mortality, Neurological, Humans, Myoclonus, Apnea, Hyperekplexia, Bradycardia, Brain Diseases, Seizures, Phenotype, Muscle Hypertonia, Nuclear Proteins, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3hd6497dTest

المؤلفون: Gras, Mathilde, Heide, Solveig, Keren, Boris, Valence, Stéphanie, Garel, Catherine, Whalen, Sandra, Jansen, Anna C, Keymolen, Kathelijn, Stouffs, Katrien, Jennesson, Mélanie, Poirsier, Céline, Lesca, Gaetan, Depienne, Christel, Nava, Caroline, Rastetter, Agnès, Curie, Aurore, Cuisset, Laurence, Des Portes, Vincent, Milh, Mathieu, Charles, Perrine, Mignot, Cyril, Héron, Delphine

مصطلحات موضوعية: Review

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/2/103Test; http://dx.doi.org/10.1136/jmg-2023-109203Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109203Test
http://jmg.bmj.com/cgi/content/short/61/2/103Test

المؤلفون: Rheims, Sylvain, Herbillon, Vania, Gaillard, Ségolène, Mercier, Catherine, Villeuve, Nathalie, Villéga, Frédéric, Cances, Claude, Castelnau, Pierre, Napuri, Silvia, de Saint‐Martin, Anne, Auvin, Stéphane, Nguyen The Tich, Sylvie, Berquin, Patrick, de Bellecize, Julitta, Milh, Mathieu, Roy, Pascal, Arzimanoglou, Alexis, Bodennec, Jacques, Bezin, Laurent, Kassai, Behrouz

المصدر: Epilepsia Open ; volume 9, issue 2, page 582-591 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12892Test

المؤلفون: Milh, Mathieu

المصدر: La Presse Médicale Formation ; volume 5, issue 2, page 165-167 ; ISSN 2666-4798

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1016/j.lpmfor.2024.02.004Test
https://api.elsevier.com/content/article/PII:S2666479824000594?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666479824000594?httpAccept=text/plainTest

المؤلفون: Khosrowabadi, Elham, Mignon-Ravix, Cécile, Riccardi, Florence, Cacciagli, Pierre, Desnous, Béatrice, Sigaudy, Sabine, Milh, Mathieu, Villard, Laurent, Kjellén, Lena, Molinari, Florence

المصدر: Human Molecular Genetics. 33(6):520-529

مصطلحات موضوعية: NDST1, intellectual disability, heparan sulfate, N-sulfation activity

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-533522Test

المؤلفون: Ayers, Katie, Eggers, Stefanie, Rollo, Ben, Smith, Katherine, Davidson, Nadia, Siddall, Nicole, Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf, Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David, Bahlo, Melanie, Oshlack, Alicia, O'Brien, Terrence, Kwan, Patrick, Koopman, Peter, Hime, Gary, Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, Mcelreavey, Ken, Banne, Ehud, Weintrob, Naomi, Benzeev, Bruria, Sinclair, Andrew

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, Victorian Clinical Genetics Services, Monash University Melbourne, The Walter and Eliza Hall Institute of Medical Research (WEHI), The University of Queensland (UQ All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations ), Technion - Israel Institute of Technology Haifa, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique des Troubles du Neurodéveloppement = Developmental Brain Disorders Laboratory (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Tel Aviv Sourasky Medical Center Te Aviv, The Hebrew University Hadassah Medical School, Chaim Sheba Medical Center, Tel Aviv University (TAU), Rigshospitalet Copenhagen, Copenhagen University Hospital, Monash University Clayton, Peter Mac Callum Cancer Centre, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Kaplan Medical Center Rehovot, Israel, Université de Gabès, Université de Sfax - University of Sfax, Hôpital Charles Nicolle Tunis, Génétique du Développement humain - Human developmental genetics, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Wolfson Medical Center, This study was supported by a National Health and Medical Research Council (NHMRC) programme grant (1074258) awarded to AS, NHMRC project grant (1156942) (K.A.), a Medical Research Future Fund Stem Cells Mission grant (MRF1201781) (K.A., B.N.R. and P.Kw), an Australian Research Council Future Fellowship (FT100100764) to M.B., A NHMRC Investigator Grant (1174040) to D.W., Agence Nationale de la Recherche funding ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038-01 and ANR 20 CE14 0007 to K.M., ANR-19-CE140022 and ANR-19-CE14-0012 to A.B., G.Z. and E.B. are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-20-CE14-0007,Goldilocks,Analyse intégrée du rôle du facteur de transcription SF-1 / NR5A1 et de ses gènes cibles dépendants du dosage dans la fonction gonadique et les troubles du développement sexuel (DSD)(2020), ANR-19-CE14-0022,SexDiff,Régulation de la détermination du sexe et de la différenciation ovarienne : implications dans les troubles du développement sexuel(2019), ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)

المصدر: ISSN: 2041-1723.

مصطلحات موضوعية: MESH: Male, MESH: Humans, MESH: Testis, MESH: Intellectual Disability, MESH: Induced Pluripotent Stem Cells, MESH: RNA-Binding Proteins, MESH: Gonadal Dysgenesis, MESH: Antigens, Neoplasm, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37296101; hal-04150348; https://hal.science/hal-04150348Test; https://hal.science/hal-04150348/documentTest; https://hal.science/hal-04150348/file/s41467-023-39040-0.pdfTest; PUBMED: 37296101; PUBMEDCENTRAL: PMC10256788

الإتاحة: https://doi.org/10.1038/s41467-023-39040-0Test
https://hal.science/hal-04150348Test
https://hal.science/hal-04150348/documentTest
https://hal.science/hal-04150348/file/s41467-023-39040-0.pdfTest

المؤلفون: Biba‐maazou, Najoua, Becq, Hélène, Pallesi‐pocachard, Emilie, Sarno, Stefania, Granjeaud, Samuel, Montheil, Aurélie, Kurz, Marie, Villard, Laurent, Milh, Mathieu, Santini, Pierre‐pascal Lenck, Aniksztejn, Laurent

المساهمون: Institut de Neurobiologie de la Méditerranée Aix-Marseille Université (INMED - INSERM U1249), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes (IPC), Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Service de pédiatrie multidisciplinaire Hôpital de la Timone Enfants - APHM, Hôpital de la Timone CHU - APHM (TIMONE), ANR-19-CE17-0018,IMprove,Recherche pré-clinique sur les maladies provoquées par un dysfonctionnement de IM.(2019)

المصدر: ISSN: 0022-3751.

مصطلحات موضوعية: [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: hal-03654270; https://amu.hal.science/hal-03654270Test; https://amu.hal.science/hal-03654270/documentTest; https://amu.hal.science/hal-03654270/file/The%20Journal%20of%20Physiology%20-%202022%20-%20Biba%E2%80%90Maazou%20-%20Time%E2%80%90limited%20alterations%20in%20cortical%20activity%20of%20a%20knock%E2%80%90in%20mouse%20model%20of.pdfTest

الإتاحة: https://doi.org/10.1113/JP282536Test
https://amu.hal.science/hal-03654270Test
https://amu.hal.science/hal-03654270/documentTest
https://amu.hal.science/hal-03654270/file/The%20Journal%20of%20Physiology%20-%202022%20-%20Biba%E2%80%90Maazou%20-%20Time%E2%80%90limited%20alterations%20in%20cortical%20activity%20of%20a%20knock%E2%80%90in%20mouse%20model%20of.pdfTest

المؤلفون: Lenoir, Marien, Beretti, Thibault, Testud, Benoit, Resseguier, Noémie, Gauthier, Kim, Fouilloux, Virginie, Gran, Célia, Paoli, Florent, El-Louali, Fedoua, Aldebert, Philippe, Blanc, Julie, Soulatges, Camille, Al-Dybiat, Sarab, Carles, Guillaume, Wanert, Chloe, Rozalen, William, Lebel, Stéphane, Arnaud, Sophie, Santelli, Dominique, Allary, Chloé, Peyre, Marianne, Grandvuillemin, Isabelle, Desroberts, Clotilde, Alaoui, Myriem Belghiti, Boubred, Farid, Michel, Fabrice, Ovaert, Caroline, Milh, Mathieu, François, Clément, Desnous, Béatrice

المساهمون: Department of Neuroradiology, APHM La Timone, Marseille, France, Département de Pédiatrie, Division de Neurologie, Hôpital de La Timone, Marseille, France, AORC Jeune Chercheur to BD

المصدر: ISSN: 2296-2360 ; Frontiers in Pediatrics ; https://hal.science/hal-04202412Test ; Frontiers in Pediatrics, 2023, 11, ⟨10.3389/fped.2023.1003585⟩.

مصطلحات موضوعية: bayley IV, congenital heart disease, white matter injuries, cardiac surgical timing, neonates, neurodevetlopmental outcomes, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

العلاقة: hal-04202412; https://hal.science/hal-04202412Test; https://hal.science/hal-04202412/documentTest; https://hal.science/hal-04202412/file/fped-11-1003585.pdfTest

الإتاحة: https://doi.org/10.3389/fped.2023.1003585Test
https://hal.science/hal-04202412Test
https://hal.science/hal-04202412/documentTest
https://hal.science/hal-04202412/file/fped-11-1003585.pdfTest

المؤلفون: Aim, Marie‐Anastasie, Rousseau, Marie‐Christine, Hamouda, Ilyes, Anzola, Any Beltran, de Villemeur, Thierry Billette, Milh, Mathieu, Maincent, Kim, Lind, Katia, Auquier, Pascal, Baumstarck, Karine, Dany, Lionel

المصدر: Health Expectations ; volume 27, issue 1 ; ISSN 1369-6513 1369-7625

الإتاحة: https://doi.org/10.1111/hex.13910Test

المؤلفون: Desnous, Béatrice, Beretti, Thibault, Muller, Nathan, Neveu, Julien, Villeneuve, Nathalie, Lépine, Anne, Daquin, Géraldine, Milh, Mathieu

المصدر: Epilepsia Open ; volume 9, issue 1, page 397-403 ; ISSN 2470-9239 2470-9239

الإتاحة: https://doi.org/10.1002/epi4.12796Test