المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079Test

المؤلفون: Conor O’Halloran, Petra Cerna, Rachel Barnicoat, Sarah MA Caney, Danièlle A Gunn-Moore

مصطلحات موضوعية: Veterinary Medicine, Diet, owner survey, water intake, nutrition

العلاقة: https://figshare.com/articles/journal_contribution/Supplemental_Material/25263422Test

الإتاحة: https://doi.org/10.25384/sage.25263422.v1Test
https://figshare.com/articles/journal_contribution/Supplemental_Material/25263422Test

المؤلفون: O’Halloran, Conor, Cerna, Petra, Barnicoat, Rachel, Caney, Sarah MA, Gunn-Moore, Danièlle A

المصدر: Journal of Feline Medicine and Surgery ; volume 26, issue 2 ; ISSN 1098-612X 1532-2750

مصطلحات موضوعية: Small Animals

الإتاحة: https://doi.org/10.1177/1098612x231209894Test

المؤلفون: Reijnders, MRF, Zachariadis, V, Latour, B, Jolly, L, Mancini, GM, Pfundt, R, Wu, KM, van Ravenswaaij-Arts, CMA, Veenstra-Knol, HE, Anderlid, BMM, Wood, SA, Cheung, SW, Barnicoat, A, Probst, F, Magoulas, P, Brooks, AS, Malmgren, H, Harila-Saari, A, Marcelis, CM, Vreeburg, M, Hobson, E, Sutton, VR, Stark, Z, Vogt, J, Cooper, N, Lim, JY, Price, S, Lai, AHM, Domingo, D, Reversade, B, Gecz, J, Gilissen, C, Brunner, HG, Kini, U, Roepman, R, Nordgren, A, Kleefstra, T

المصدر: American journal of human genetics. 98(2):373-381

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:132983542Test

المؤلفون: O’Donnell-Luria, Anne H, Pais, Lynn S, Faundes, Víctor, Wood, Jordan C, Sveden, Abigail, Luria, Victor, Jamra, Rami Abou, Accogli, Andrea, Amburgey, Kimberly, Anderlid, Britt Marie, Azzarello-Burri, Silvia, Basinger, Alice A, Bianchini, Claudia, Bird, Lynne M, Buchert, Rebecca, Carre, Wilfrid, Ceulemans, Sophia, Charles, Perrine, Cox, Helen, Culliton, Lisa, Currò, Aurora, Study, Deciphering Developmental Disorders, McRae, Jeremy F, Clayton, Stephen, Fitzgerald, Tomas W, Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M, Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D, King, Daniel, Krishnappa, Netravathi, Mason, Laura E, Singh, Tarjinder, Tivey, Adrian R, Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J, Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N, Connell, Fiona, Cooper, Nicola, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D’Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus

المصدر: American Journal of Human Genetics. 104(6)

مصطلحات موضوعية: Biological Sciences, Genetics, Autism, Neurosciences, Brain Disorders, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Pediatric, Clinical Research, Epilepsy, Mental Health, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Female, Genetic Variation, Haploinsufficiency, Heterozygote, Humans, Infant, Male, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Deciphering Developmental Disorders (DDD) Study, H3K4 methylation, KMT2E, autism, epilepsy, epileptic encephalopathy, global developmental delay, intellectual disability, neurodevelopmental disorder, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5jj1c7fwTest

المؤلفون: Cullinane, AR, Straatman-Iwanowska, A, Seo, JK, Ko, JS, Song, KS, Gizewska, M, Gruszfeld, D, Gliwicz, D, Tuysuz, B, Erdemir, G, Sougrat, R, Wakabayashi, Y, Hinds, R, Barnicoat, A, Mandel, H, Chitayat, D, Fischler, B, Garcia-Cazorla, A, Knisely, AS, Kelly, DA, Maher, ER, Gissen, P

المصدر: Human mutation. 30(2):E330-E337

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:120988997Test

المؤلفون: O'Halloran, Conor, Cerna, Petra, Barnicoat, Rachel, Caney, Sarah MA, Gunn-Moore, Danièlle A

المصدر: Journal of Feline Medicine & Surgery; Feb2024, Vol. 26 Issue 2, p1-7, 7p

المؤلفون: Acosta, Fernando, Nowak, Catherine, Wilson, William G., Steel, Dora, Wirth, Thomas, Garone, Giacomo, Kurian, Manju, A., Piton, Amélie, Millan, Francisca, Telegrafi, Aida, Drouot, Nathalie, Rudolf, Gabrielle, Chelly, Jamel, Marks, Warren, Burglen, Lydie, Demailly, Diane, Coubes, Philippe, Jimenez, Mayté, Castro, Joriot, Sylvie, Ghoumid, Jamal, Belin, Jérémie, Faucheux, Jean-Marc, Blumkin, Lubov, Hull, Mariam, Parnes, Mered, Ravelli, Claudia, Poulen, Gaëtan, Calmels, Nadège, Nemeth, Andrea H., Smith, Martin, Barnicoat, Angela, Ewenczyk, Claire, Méneret, Aurélie, Roze, Emmanuel, Keren, Boris, Mignot, Cyril, Béroud, Christophe, Wilson, William, Capuano, Alessandro, Vidailhet, Marie, Lin, Jean-Pierre, Tranchant, Christine, Cif, Laura, Doummar, Diane, Anheim, Mathieu

المساهمون: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Les Hôpitaux Universitaires de Strasbourg (HUS), Università degli Studi di Roma Tor Vergata Roma, Italia = University of Rome Tor Vergata Rome, Italy = Université de Rome Tor Vergata Rome, Italie, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, Institute of Child Health London, University College of London London (UCL), Laboratoire de Diagnostic Génétique CHU Strasbourg, Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), GeneDx Gaithersburg, MD, USA, University of North Texas Health Science Center Fort Worth, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Institut de Génomique Fonctionnelle (IGF), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Université de Lausanne = University of Lausanne (UNIL), Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Faculté de Médecine Henri Warembourg - Université de Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Agen-Nérac, Tel Aviv University (TAU), Texas Children's Hospital Houston, USA, Mécanismes moléculaires dans les démences neurodégénératives (MMDN), École Pratique des Hautes Études (EPHE), Université Paris Sciences et Lettres (PSL)-Université Paris Sciences et Lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Oxford University Hospitals NHS Trust, University of Oxford, Great Ormond Street Hospital for Children London (GOSH), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière AP-HP, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Boston Children's Hospital, University of Virginia, Evelina London Children's Hospital, Sorbonne Université (SU)

المصدر: ISSN: 0885-3185.

مصطلحات موضوعية: GNAO1, Dystonia, Mutation, Phenotypes, MESH: Dystonia, MESH: Dystonic Disorders, MESH: GTP-Blinding Protein alpha Subinits, Gi-Go, MESH: Humans, MESH: Movement Disorders, MESH: Parkinsonian Disorders, MESH: Phenotype, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35722775; hal-03780376; https://amu.hal.science/hal-03780376Test; https://amu.hal.science/hal-03780376/documentTest; https://amu.hal.science/hal-03780376/file/Movement%20Disorders%20-%202022%20-%20Wirth%20-%20Highlighting%20the%20Dystonic%20Phenotype%20Related%20to%20GNAO1.pdfTest; PUBMED: 35722775; PUBMEDCENTRAL: PMC9545634; WOS: 000812966100001

الإتاحة: https://doi.org/10.1002/mds.29074Test
https://amu.hal.science/hal-03780376Test
https://amu.hal.science/hal-03780376/documentTest
https://amu.hal.science/hal-03780376/file/Movement%20Disorders%20-%202022%20-%20Wirth%20-%20Highlighting%20the%20Dystonic%20Phenotype%20Related%20to%20GNAO1.pdfTest

المؤلفون: Wirth, T., Garone, G., Kurian, M.A., Piton, A., Millan, F., Telegrafi, A., Drouot, N., Rudolf, G., Chelly, J., Marks, W., Burglen, L., Demailly, D., Coubes, P., Castro-Jimenez, M., Joriot, S., Ghoumid, J., Belin, J., Faucheux, J.M., Blumkin, L., Hull, M., Parnes, M., Ravelli, C., Poulen, G., Calmels, N., Nemeth, A.H., Smith, M., Barnicoat, A., Ewenczyk, C., Méneret, A., Roze, E., Keren, B., Mignot, C., Beroud, C., Acosta, F., Nowak, C., Wilson, W.G., Steel, D., Capuano, A., Vidailhet, M., Lin, J.P., Tranchant, C., Cif, L., Doummar, D., Anheim, M.

المصدر: Movement disorders, vol. 37, no. 7, pp. 1547-1554

مصطلحات موضوعية: Dystonia/genetics, Dystonic Disorders/genetics, GTP-Binding Protein alpha Subunits, Gi-Go/genetics, Humans, Movement Disorders/genetics, Parkinsonian Disorders/genetics, Phenotype, GNAO1, dystonia, mutation, phenotypes

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35722775; info:eu-repo/semantics/altIdentifier/eissn/1531-8257; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_7700259238450; https://serval.unil.ch/notice/serval:BIB_770025923845Test; urn:issn:0885-3185; https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test

الإتاحة: https://doi.org/10.1002/mds.29074Test
https://serval.unil.ch/notice/serval:BIB_770025923845Test
https://serval.unil.ch/resource/serval:BIB_770025923845.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_7700259238450Test

المؤلفون: Kaplanis, Joanna, Ide, Benjamin, Sanghvi, Rashesh, Neville, Matthew, Danecek, Petr, Coorens, Tim, Prigmore, Elena, Short, Patrick, Gallone, Giuseppe, McRae, Jeremy, Genomics England Research Consortium, Carmichael, Jenny, Barnicoat, Angela, Firth, Helen, O'Brien, Patrick, Rahbari, Raheleh, Hurles, Matthew

المصدر: nlmid: 0410462 ; essn: 1476-4687

مصطلحات موضوعية: Age Factors, Genetic Diseases, Inborn, Germ Cells, Germ-Line Mutation, Humans, Male, Mutagenesis, Mutation, Parents, Polymorphism, Single Nucleotide

وصف الملف: application/pdf

العلاقة: https://www.repository.cam.ac.uk/handle/1810/338023Test

الإتاحة: https://doi.org/10.17863/CAM.85428Test
https://www.repository.cam.ac.uk/handle/1810/338023Test