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1دورية أكاديمية
المؤلفون: Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza
المساهمون: Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics
مصطلحات موضوعية: ACBD6, N-myristoylation, ataxia, dystonia, neurodegeneration, parkinsonism
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid M., Ruzhnikov, Maura R. Z., Fallot, Camille, Smol, Thomas, Rama, Melanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald R., Thabet, Farouq, Misra, Vinod K., Cunningham, Mitch, Leal, Suzanne M., Järvelä, Irma, Normand, Elizabeth A., Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy K., Schrauwen, Isabelle
المساهمون: Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics
مصطلحات موضوعية: neurology, genetic variation, phenotype, human genetics, INTELLECTUAL DISABILITY, UBIQUITIN LIGASE, VARIANTS, HECW2, MUTATIONS, NEDL2, GENETICS, GENES, 3111 Biomedicine, 1184 Genetics, developmental biology, physiology
وصف الملف: application/pdf
العلاقة: WKC is funded by grants from the JPB Foundation and Simons Foundation. IS is supported by a pilot grant from the Columbia University Sergievsky Center.; Acharya , A , Kavus , H , Dunn , P , Nasir , A , Folk , L , Withrow , K , Wentzensen , I M , Ruzhnikov , M R Z , Fallot , C , Smol , T , Rama , M , Brown , K , Whalen , S , Ziegler , A , Barth , M , Chassevent , A , Smith-Hicks , C , Afenjar , A , Courtin , T , Heide , S , Font-Montgomery , E , Heid , C , Hamm , J A , Love , D R , Thabet , F , Misra , V K , Cunningham , M , Leal , S M , Järvelä , I , Normand , E A , Zou , F , Helal , M , Keren , B , Torti , E , Chung , W K & Schrauwen , I 2022 , ' Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders ' , Journal of Medical Genetics , vol. 59 , pp. 669–677 . https://doi.org/10.1136/jmedgenet-2021-107871Test; ORCID: /0000-0002-1770-6187/work/127003138; e3ee1496-7280-490f-9cbe-b4337608689c; http://hdl.handle.net/10138/353339Test; 000728118500001
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3دورية أكاديمية
المؤلفون: Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza
المصدر: Brain (2023) (In press).
مصطلحات موضوعية: ACBD6, neudegeneration, dystonia, ataxia, parkinsonism, N-myristoylation
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181376/1/awad380-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181376Test/
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4دورية أكاديمية
المؤلفون: Iwata-Otsubo, Aiko, Skraban, Cara M., Yoshimura, Atsunori, Sakata, Toyonori, Alves, Cesar Augusto P., Fiordaliso, Sarah K., Kuroda, Yukiko, Vengoechea, Jaime, Grochowsky, Angela, Ernste, Paige, Lulis, Lauren, Nesbitt, Addie, Tayoun, Ahmad Abou, Gray, Christopher, Towne, Meghan C., Radtke, Kelly, Normand, Elizabeth A., Rhodes, Lindsay, Seiler, Christoph, Shirahige, Katsuhiko
المصدر: Human Genetics; Mar2024, Vol. 143 Issue 3, p437-453, 17p
مصطلحات موضوعية: RNA polymerases, TRANSFER RNA, LYMPHOBLASTOID cell lines, GROWTH disorders, TRANSCRIPTION factors, FACIAL abnormalities
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5دورية أكاديمية
المؤلفون: Cordovado, Amélie, Schaettin, Martina, Jeanne, Mederic, Panasenkava, Veranika, Denommé‐pichon, Anne‐sophie, Keren, Boris, Mignot, Cyril, Doco-Fenzy, Martine, Rodan, Lance, Ramsey, Keri, Narayanan, Vinodh, Jones, Julie R, Prijoles, Eloise J, Mitchell, Wendy G, Ozmore, Jillian R, Juliette, Kali, Torti, Erin, Normand, Elizabeth A, Granger, Leslie, Petersen, Andrea K, Au, Margaret G, Matheny, Juliann P, Phornphutkul, Chanika, Chambers, Mary-Kathryn, Fernández-Ramos, Joaquín-Alejandro, López-Laso, Eduardo, Kruer, Michael, C, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond, J, Childers, Anna, Everman, David B, Isidor, Bertrand, Audebert‐bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frederic, Stoeckli, Esther, T, Toutain, Annick, Vuillaume, Marie-Laure
المساهمون: Imaging, Brain & Neuropsychiatry (iBraiN), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Zürich Zürich = University of Zurich (UZH), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA), Boston Children's Hospital, Harvard Medical School Boston (HMS), The Translational Genomics Research Institute (TGen), The Greenwood Genetic Center, Keck School of Medicine Los Angeles, University of Southern California (USC), Dartmouth Hitchcock Medical Center (DHMC), Gillette Children's Specialty Healthcare St Paul, GeneDx Gaithersburg, MD, USA, Randall Children's Hospital Portland, University of Kentucky (UK), Warren Alpert Medical School of Brown University, Rhode Island Hospital Providence, RI, États-Unis, Instituto Maimonides de Investigación Biomédica de Cordoba (IMIBIC), Universidad de Córdoba = University of Córdoba Córdoba -Hospital Universitario Reina Sofía, Barrow Neurological Institute, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Telethon Institute of Genetics and Medicine = Istituto Telethon di Genetica e Medicina (TIGEM), Università degli Studi di Firenze = University of Florence = Université de Florence (UniFI), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôpital Morvan - CHRU de Brest (CHU - BREST ), 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 ), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ITX-lab unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Funding for HUGODIMS (Western France exome-based trio approach project to identifygenes involved in intellectual disability) was supported by a grant from the French Ministryof Health and from the Health Regional Agency from Poitou-Charentes HUGODIMS, 2013,RC14_0107 . A.C. is a research student recipient of a grant from the University of Tours.
المصدر: ISSN: 0964-6906.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.GEN]Life Sciences [q-bio]/Genetics
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35604360; hal-03719616; https://hal.science/hal-03719616Test; https://hal.science/hal-03719616/documentTest; https://hal.science/hal-03719616/file/Cordovado%20et%20al%20-%202022%20-%20SEMA6B%20variants%20cause%20intellectual%20disability.pdfTest; PUBMED: 35604360
الإتاحة: https://doi.org/10.1093/hmg/ddac114Test
https://hal.science/hal-03719616Test
https://hal.science/hal-03719616/documentTest
https://hal.science/hal-03719616/file/Cordovado%20et%20al%20-%202022%20-%20SEMA6B%20variants%20cause%20intellectual%20disability.pdfTest -
6دورية أكاديمية
المؤلفون: Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L.I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., van de Laar, Ingrid M.B.H., Tan, Q, Lorenzo, Damaris
المصدر: Genomics England Research Consortium , Cousin , M A , Undiagnosed Diseases Network , Creighton , B A , Breau , K A , Spillmann , R C , Torti , E , Dontu , S , Tripathi , S , Ajit , D , Edwards , R J , Afriyie , S , Bay , J C , Harper , K M , Beltran , A A , Munoz , L J , Falcon Rodriguez , L , Stankewich , M C , Person , R E , Si , Y , Normand , E A , Blevins ....
الإتاحة: https://doi.org/10.1038/s41588-021-00886-zTest
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175aTest
http://www.scopus.com/inward/record.url?scp=85111456769&partnerID=8YFLogxKTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273149Test/ -
7دورية أكاديمية
المؤلفون: Acharya, Anushree, Kavus, Haluk, Dunn, Patrick, Nasir, Abdul, Folk, Leandra, Withrow, Kara, Wentzensen, Ingrid, M, Ruzhnikov, Maura, R Z, Fallot, Camille, Smol, Thomas, Rama, Mélanie, Brown, Kathleen, Whalen, Sandra, Ziegler, Alban, Barth, Magali, Chassevent, Anna, Smith-Hicks, Constance, Afenjar, Alexandra, Courtin, Thomas, Heide, Solveig, Font-Montgomery, Esperanza, Heid, Caleb, Hamm, J. Austin, Love, Donald, R, Thabet, Farouq, Misra, Vinod, K, Cunningham, Mitch, Leal, Suzanne, M, Jarvela, Irma, Normand, Elizabeth, A, Zou, Fanggeng, Helal, Mayada, Keren, Boris, Torti, Erin, Chung, Wendy, K, Schrauwen, Isabelle
المساهمون: Columbia University Medical Center (CUMC), Columbia University New York, The George Washington University (GW), University of Agriculture Faisalabad - UAF (PAKISTAN), GeneDx Gaithersburg, MD, USA, Stanford University, Centre Hospitalier Régional Universitaire CHU Lille (CHRU 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), Institut de génétique médicale, University of Colorado Anschutz Aurora, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Kennedy Krieger Institute Baltimore, Johns Hopkins University School of Medicine Baltimore, CHU Pitié-Salpêtrière AP-HP, University of Missouri Columbia (Mizzou), University of Missouri System, Sidra Medicine Doha, Qatar, Children's Hospital of Michigan, Central Michigan University (CMU), Helsingin yliopisto = Helsingfors universitet = University of Helsinki
المصدر: ISSN: 0022-2593.
مصطلحات موضوعية: genetic variation, human genetics, neurology, phenotype, [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34321324; hal-03998194; https://hal.science/hal-03998194Test; https://hal.science/hal-03998194/documentTest; https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest; PUBMED: 34321324
الإتاحة: https://doi.org/10.1136/jmedgenet-2021-107871Test
https://hal.science/hal-03998194Test
https://hal.science/hal-03998194/documentTest
https://hal.science/hal-03998194/file/HECW2_main_Tables_updated.pdfTest -
8دورية أكاديمية
المؤلفون: Normand, Elizabeth A., Braxton, Alicia, Nassef, Salma, Ward, Patricia A., Vetrini, Francesco, He, Weimin, Patel, Vipulkumar, Qu, Chunjing, Westerfield, Lauren E., Stover, Samantha, Dharmadhikari, Avinash V., Muzny, Donna M., Gibbs, Richard A., Dai, Hongzheng, Meng, Linyan, Wang, Xia, Xiao, Rui, Liu, Pengfei, Bi, Weimin, Xia, Fan, Walkiewicz, Magdalena, Van den Veyver, Ignatia B., Eng, Christine M., Yang, Yaping
المصدر: Genome Medicine ; volume 10, issue 1 ; ISSN 1756-994X
مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine
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9دورية أكاديمية
المصدر: Fertility and Sterility ; volume 109, issue 2, page 213-220 ; ISSN 0015-0282
الإتاحة: https://doi.org/10.1016/j.fertnstert.2017.12.010Test
https://api.elsevier.com/content/article/PII:S001502821732126X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S001502821732126X?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Breman, Amy M., Chow, Jennifer C., U'Ren, Lance, Normand, Elizabeth A., Qdaisat, Sadeem, Zhao, Li, Henke, David M., Chen, Rui, Shaw, Chad A., Jackson, Laird, Yang, Yaping, Vossaert, Liesbeth, Needham, Rachel H. V., Chang, Elizabeth J., Campton, Daniel, Werbin, Jeffrey L., Seubert, Ron C., Van den Veyver, Ignatia B., Stilwell, Jackie L., Kaldjian, Eric P., Beaudet, Arthur L.
المساهمون: Baylor College of Medicine
المصدر: Prenatal Diagnosis ; volume 36, issue 11, page 1009-1019 ; ISSN 0197-3851 1097-0223
الإتاحة: https://doi.org/10.1002/pd.4924Test