-
1دورية أكاديمية
المؤلفون: Radio, FC, Pang, KF, Ciolfi, A, Levy, MA, Hernandez-Garcia, A, Pedace, L, Pantaleoni, F, Liu, ZD, de Boer, E, Jackson, A, Bruselles, A, McConkey, H, Stellacci, E, Lo Cicero, S, Motta, M, Carrozzo, R, Dentici, ML, McWalter, K, Desai, M, Monaghan, KG, Telegrafi, A, Philippe, C, Vitobello, A, Au, M, Grand, K, Sanchez-Lara, PA, Baez, J, Lindstrom, K, Kulch, P, Sebastian, J, Madan-Khetarpal, S, Roadhouse, C, MacKenzie, JJ, Monteleone, B, Saunders, CJ, Cuevas, JKJ, Cross, L, Zhou, DH, Hartley, T, Sawyer, SL, Monteiro, FP, Secches, TV, Kok, F, Schultz-Rogers, LE, Macke, EL, Morava, E, Klee, EW, Kemppainen, J, Iascone, M, Selicorni, A, Tenconi, R, Amor, DJ, Pais, L, Gallacher, L, Turnpenny, PD, Stals, K, Ellard, S, Cabet, S, Lesca, G, Pascal, J, Steindl, K, Ravid, S, Weiss, K, Castle, AMR, Carter, MT, Kalsner, L, de Vries, BBA, van Bon, BW, Wevers, MR, Pfundt, R, Stegmann, APA, Kerr, B, Kingston, HM, Chandler, KE, Sheehan, W, Elias, AF, Shinde, DN, Towne, MC, Robin, NH, Goodloe, D, Vanderver, A, Sherbini, O, Bluske, K, Hagelstrom, RT, Zanus, C, Faletra, F, Musante, L, Kurtz-Nelson, EC, Earl, RK, Anderlid, BM, Morin, G, van Slegtenhorst, M, Diderich, KEM, Brooks, AS, Gribnau, J, Boers, RG, Finestra, TR, Carter, LB, Rauch, A, Gasparini, P, Boycott, KM, Barakat, TS, Graham, JM, Faivre, L, Banka, S, Wang, TY, Eichler, EE, Priolo, M, Dallapiccola, B, Vissers, LELM, Sadikovic, B, Scott, DA, Holder, JL, Tartaglia, M
المصدر: American journal of human genetics. 108(3):502-516
مصطلحات موضوعية: Medicin och hälsovetenskap
-
2دورية أكاديمية
المؤلفون: Alves, C.A.P.F., Sherbini, O., D’Arco, F., Steel, D., Kurian, M.A., Radio, F.C., Ferrero, G.B., Carli, D., Tartaglia, M., Balci, T.B., Powell-Hamilton, N.N., Schrier Vergano, S.A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E.R., Littlejohn, R.O., Lessel, D., Lüttgen, S., Kentros, C., Anyane-Yeboa, K., Catarino, C.B., Mercimek-Andrews, S., Denecke, J., Lyons, M.J., Klopstock, T., Bhoj, E.J., Bryant, L., Vanderver, A.
مصطلحات موضوعية: info:eu-repo/classification/ddc
وصف الملف: application/pdf
العلاقة: https://mediatum.ub.tum.de/1748265Test; https://mediatum.ub.tum.de/doc/1748265/document.pdfTest
الإتاحة: https://doi.org/10.3174/ajnr.a7555Test
https://mediatum.ub.tum.de/1748265Test
https://mediatum.ub.tum.de/doc/1748265/document.pdfTest -
3دورية أكاديمية
المؤلفون: Alves, CAPF, Sherbini, O, D'Arco, F, Steel, D, Kurian, MA, Radio, FC, Ferrero, GB, Carli, D, Tartaglia, M, Balci, TB, Powell-Hamilton, NN, Schrier Vergano, SA, Reutter, H, Hoefele, J, Günthner, R, Roeder, ER, Littlejohn, RO, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, CB, Mercimek-Andrews, S, Denecke, J, Lyons, MJ, Klopstock, T, Bhoj, EJ, Bryant, L, Vanderver, A
المصدر: American Journal of Neuroradiology , 43 (7) pp. 1048-1053. (2022)
مصطلحات موضوعية: Brain, Brain Neoplasms, Child, Germ Cells, Humans, Male, Malformations of Cortical Development, Neurodevelopmental Disorders, Retrospective Studies
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10153679Test/
-
4دورية أكاديمية
المؤلفون: Helman G, Mendes MI, Nicita F, Darbelli L, Sherbini O, Moore T, Derksen A, Amy Pizzino, Carrozzo R, Torraco A, Catteruccia M, Aiello C, Goffrini P, Figuccia S, Smith DEC, Hadzsiev K, Hahn A, Biskup S, Brösse I, Kotzaeridou U, Gauck D, Grebe TA, Elmslie F, Stals K, Gupta R, Bertini E, Thiffault I, Taft RJ, Schiffmann R, Brandl U, Haack TB, Salomons GS, Simons C, Bernard G, van der Knaap MS, Vanderver A, Husain RA.
المساهمون: Helman, G, Mendes, Mi, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy, Pizzino, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, Dec, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, Ta, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, Rj, Schiffmann, R, Brandl, U, Haack, Tb, Salomons, G, Simons, C, Bernard, G, van der Knaap, M, Vanderver, A, Husain, Ra.
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000689532600001; volume:23; issue:12; firstpage:2352; lastpage:2359; numberofpages:8; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11381/2912781Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113566436; https://www.sciencedirect.com/science/article/abs/pii/S109836002105440X?via=ihubTest
الإتاحة: https://doi.org/10.1038/s41436-021-01286-8Test
http://hdl.handle.net/11381/2912781Test
https://www.sciencedirect.com/science/article/abs/pii/S109836002105440X?via=ihubTest -
5دورية أكاديمية
المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.
المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.
مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test
الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test -
6دورية أكاديمية
المؤلفون: Alves, C. A. P. F., Sherbini, O., Powell-Hamilton, N. N., Schrier Vergano, S. A., Reutter, H., Hoefele, J., Günthner, R., Roeder, E. R., Littlejohn, R. O., Lessel, D., Lüttgen, S., Kentros, C., D’Arco, F., Anyane-Yeboa, K., Catarino, C. B., Mercimek-Andrews, S., Denecke, Jannis, Lyons, M. J., Klopstock, Thomas, Bhoj, E. J., Bryant, L., Vanderver, A., Steel, D., Kurian, M. A., Radio, F. C., Ferrero, G. B., Carli, D., Tartaglia, M., Balci, T. B.
المصدر: American journal of neuroradiology 43(7), 1048 - 1053 (2022). doi:10.3174/ajnr.A7555
مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Brain: diagnostic imaging, Brain: pathology, Brain Neoplasms: diagnostic imaging, Brain Neoplasms: genetics, Brain Neoplasms: pathology, Child, Germ Cells: pathology, Histones: genetics, Humans, Male, Malformations of Cortical Development: pathology, Neurodevelopmental Disorders: pathology, Retrospective Studies
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:35772801; info:eu-repo/semantics/altIdentifier/issn/0195-6108; info:eu-repo/semantics/altIdentifier/issn/1936-959X; https://pub.dzne.de/record/164828Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-01272%22Test
-
7دورية أكاديمية
المؤلفون: Malhotra A., Ziegler A., Shu L., Perrier R., Amlie-Wolf L., Wohler E., Lygia De MacEna Sobreira N., Colin E., Vanderver A., Sherbini O., Stouffs K., Scalais E., Serretti A., Barth M., Navet B., Rollier P., Xi H., Wang H., Zhang H., Perry D. L., Ferrarini A., Colombo R., Pepler A., Schneider A., Tomiwa K., Okamoto N., Matsumoto N., Miyake N., Taft R., Mao X., Bonneau D.
المساهمون: Malhotra A., Ziegler A., Shu L., Perrier R., Amlie-Wolf L., Wohler E., Lygia De MacEna Sobreira N., Colin E., Vanderver A., Sherbini O., Stouffs K., Scalais E., Serretti A., Barth M., Navet B., Rollier P., Xi H., Wang H., Zhang H., Perry D.L., Ferrarini A., Colombo R., Pepler A., Schneider A., Tomiwa K., Okamoto N., Matsumoto N., Miyake N., Taft R., Mao X., Bonneau D.
مصطلحات موضوعية: gain of function mutation, genetics, medical, mutation, missense
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32820033; info:eu-repo/semantics/altIdentifier/wos/WOS:000702447400007; volume:58; issue:10; firstpage:712; lastpage:716; numberofpages:5; journal:JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11585/851070Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85094950767
-
8
المؤلفون: Charsar, B., Cross, Z., Sherbini, O., Vanderver, A., Hamilton, E., van der Knapp, M.
المساهمون: Neurology
المصدر: Annals of Neurology, 84, S395-S395. John Wiley and Sons Inc.
Charsar, B, Cross, Z, Sherbini, O, Vanderver, A, Hamilton, E & van der Knapp, M 2018, ' Classification of Mutations in TUBB4A: A New Spectrum of Disease ', Annals of Neurology, vol. 84, pp. S395-S395 .الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::736b286c8146ffe4eb40e48424644fa5Test
https://research.vumc.nl/en/publications/7e339029-841a-4b9b-a2f4-7b68d03b97a8Test -
9
المؤلفون: Gilles Morin, Krista Bluske, Nathaniel H. Robin, Laurence Faivre, Manuela Priolo, Dihong Zhou, Evangeline Kurtz-Nelson, Tianyun Wang, Omar Sherbini, Daryl A. Scott, Karen Stals, Fabíola Paoli Monteiro, Kaifang Pang, Sara Cabet, Francesca Clementina Radio, Bruno Dallapiccola, Marjon van Slegtenhorst, Rachel K. Earl, Katheryn Grand, Maria Iascone, Alice S. Brooks, Angelo Selicorni, July K. Jean Cuevas, Paolo Gasparini, Maria Lisa Dentici, Marialetizia Motta, Britt-Marie Anderlid, Kristin Lindstrom, Berrin Monteleone, Andrea Ciolfi, Karin Weiss, Katharina Steindl, Kirsty McWalter, Rosalba Carrozzo, Ruben Boers, Helen Kingston, Kym M. Boycott, Bekim Sadikovic, Laura Schultz-Rogers, Evan E. Eichler, Laura A Cross, Alison M R Castle, Louisa Kalsner, Lucia Pedace, Marijke R. Wevers, John M. Graham, Jessica Sebastian, Antonio Vitobello, Gaetan Lesca, Alexander P.A. Stegmann, Suneeta Madan-Khetarpal, Tahsin Stefan Barakat, Abdallah F. Elias, Teresa Robert Finestra, Adeline Vanderver, Peter D. Turnpenny, Bregje W.M. van Bon, Aida Telegrafi, David J. Amor, Deepali N. Shinde, Pedro A. Sanchez-Lara, Lisenka E.L.M. Vissers, Adam Jackson, Rolph Pfundt, Alessandro Bruselles, Andres Hernandez-Garcia, Karin E. M. Diderich, Flavio Faletra, Dana H. Goodloe, Joanne Baez, Sarit Ravid, Romano Tenconi, Sarah L. Sawyer, Lynn Pais, Bronwyn Kerr, Joost Gribnau, Lauren Carter, Melissa T. Carter, Zhandong Liu, Jennifer L. Kemppainen, Jennifer MacKenzie, Jimmy Holder, Elke de Boer, Margaret Au, Taila Hartley, Carol J Saunders, Luciana Musante, Bert B.A. de Vries, Tania Vertemati Secches, Haley McConkey, Willow Sheehan, Francesca Pantaleoni, Caterina Zanus, Christophe Philippe, Chelsea Roadhouse, Stefania Lo Cicero, Sian Ellard, R. Tanner Hagelstrom, Megha Desai, Fernando Kok, Joset Pascal, Marco Tartaglia, Eric W. Klee, Eva Morava, Michael A. Levy, Peggy Kulch, Lyndon Gallacher, Erica L. Macke, Emilia Stellacci, Siddharth Banka, Kristin G. Monaghan, Anita Rauch, Meghan C. Towne, Kate Chandler
المساهمون: Clinical Genetics, Developmental Biology, Radio, F. C., Pang, K., Ciolfi, A., Levy, M. A., Hernandez-Garcia, A., Pedace, L., Pantaleoni, F., Liu, Z., de Boer, E., Jackson, A., Bruselles, A., Mcconkey, H., Stellacci, E., Lo Cicero, S., Motta, M., Carrozzo, R., Dentici, M. L., Mcwalter, K., Desai, M., Monaghan, K. G., Telegrafi, A., Philippe, C., Vitobello, A., Au, M., Grand, K., Sanchez-Lara, P. A., Baez, J., Lindstrom, K., Kulch, P., Sebastian, J., Madan-Khetarpal, S., Roadhouse, C., Mackenzie, J. J., Monteleone, B., Saunders, C. J., Jean Cuevas, J. K., Cross, L., Zhou, D., Hartley, T., Sawyer, S. L., Monteiro, F. P., Secches, T. V., Kok, F., Schultz-Rogers, L. E., Macke, E. L., Morava, E., Klee, E. W., Kemppainen, J., Iascone, M., Selicorni, A., Tenconi, R., Amor, D. J., Pais, L., Gallacher, L., Turnpenny, P. D., Stals, K., Ellard, S., Cabet, S., Lesca, G., Pascal, J., Steindl, K., Ravid, S., Weiss, K., Castle, A. M. R., Carter, M. T., Kalsner, L., de Vries, B. B. A., van Bon, B. W., Wevers, M. R., Pfundt, R., Stegmann, A. P. A., Kerr, B., Kingston, H. M., Chandler, K. E., Sheehan, W., Elias, A. F., Shinde, D. N., Towne, M. C., Robin, N. H., Goodloe, D., Vanderver, A., Sherbini, O., Bluske, K., Hagelstrom, R. T., Zanus, C., Faletra, F., Musante, L., Kurtz-Nelson, E. C., Earl, R. K., Anderlid, B. -M., Morin, G., van Slegtenhorst, M., Diderich, K. E. M., Brooks, A. S., Gribnau, J., Boers, R. G., Finestra, T. R., Carter, L. B., Rauch, A., Gasparini, P., Boycott, K. M., Barakat, T. S., Graham, J. M., Faivre, L., Banka, S., Wang, T., Eichler, E. E., Priolo, M., Dallapiccola, B., Vissers, L. E. L. M., Sadikovic, B., Scott, D. A., Holder, J. L., Tartaglia, M., MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: American Journal of Human Genetics, 108(3), 502-516. Cell Press
American Journal of Human Genetics, 108, 3, pp. 502-516
Am J Hum Genet
American Journal of Human Genetics, 108, 502-516مصطلحات موضوعية: 0301 basic medicine, SHARP, Male, obesity, genotype-phenotype correlations, Autism Spectrum Disorder, PROTEIN, Chromosome Disorders, Haploinsufficiency, RNA-Binding Protein, PHENOTYPE CORRELATIONS, 1p36, distal 1p36 deletion syndrome, DNA methylome analysis, episignature, neurodevelopmental disorder, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Chromosomes, Human, X, DNA Methylation, DNA-Binding Proteins, Epigenesis, Genetic, Female, Humans, Intellectual Disability, Neurodevelopmental Disorders, Phenotype, RNA-Binding Proteins, Young Adult, 0302 clinical medicine, Neurodevelopmental disorder, Neurodevelopmental Disorder, Intellectual disability, MOLECULAR CHARACTERIZATION, Genetics (clinical), Genetics, DNA methylome analysi, SPLIT-ENDS, Hypotonia, Autism spectrum disorder, MONOSOMY 1P36, Pair 1, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, DNA-Binding Protein, Biology, genotype-phenotype correlation, Chromosomes, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Report, REVEALS, medicine, Epigenetics, Preschool, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 1p36 deletion syndrome, IDENTIFICATION, MUTATIONS, medicine.disease, GENE, 030104 developmental biology, Chromosome Disorder, 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ca1a210d6320f77ca12d03a0549f6d7Test
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184Test -
10
المؤلفون: Benjamin Navet, Renee Perrier, Kiyotaka Tomiwa, Alexander Pepler, Hui Xi, Adele Schneider, Xiao Mao, Ryan J. Taft, Paul Rollier, Alban Ziegler, Roberto Colombo, Noriko Miyake, Emmanuel Scalais, Katrien Stouffs, Estelle Colin, Denise L. Perry, Adeline Vanderver, Nobuhiko Okamoto, Magalie Barth, Li Shu, Elizabeth Wohler, Louise Amlie-Wolf, Hainan Zhang, Alessandro Serretti, Naomichi Matsumoto, Dominique Bonneau, Hua Wang, Omar Sherbini, Alka Malhotra, Nara Sobreira, Alessandra Ferrarini
المساهمون: Malhotra A., Ziegler A., Shu L., Perrier R., Amlie-Wolf L., Wohler E., Lygia De MacEna Sobreira N., Colin E., Vanderver A., Sherbini O., Stouffs K., Scalais E., Serretti A., Barth M., Navet B., Rollier P., Xi H., Wang H., Zhang H., Perry D.L., Ferrarini A., Colombo R., Pepler A., Schneider A., Tomiwa K., Okamoto N., Matsumoto N., Miyake N., Taft R., Mao X., Bonneau D., Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), 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), Hunan Agricultural University [Changsha], Department of Neurology, Children's National Medical Center, Universitair Ziekenhuis Brussel, Centre Hospitalier de Luxembourg [Luxembourg] (CHL), Institute of Psychiatry, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Réseau Maladies Métaboliques, Hôpitaux Universitaires du Grand Ouest, Immunobiology of Human αβ and γδ T Cells and Immunotherapeutic Applications (CRCINA-ÉQUIPE 1), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), CHU Pontchaillou [Rennes], Shandong University, Nanjing University of Science and Technology (NJUST), Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Università degli Studi di Brescia [Brescia], Genetics Division, Einstein Medical Center, Gifu University Graduate School of Medicine, Yokohama City University School of Medecine (YCUSM), Yokohama University School of Medecine, Institute for Molecular Bioscience, University of Queensland [Brisbane], Clinical sciences, Medical Genetics, Reproduction and Genetics, Faculty of Law and Criminology
المصدر: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, pp.jmedgenet-2020-107137. ⟨10.1136/jmedgenet-2020-107137⟩مصطلحات موضوعية: 0301 basic medicine, gain of function mutation, Microcephaly, [SDV]Life Sciences [q-bio], Population, Biology, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Missense mutation, education, Exome, Allele frequency, Genetics (clinical), Exome sequencing, ComputingMilieux_MISCELLANEOUS, education.field_of_study, mutation, missense, medicine.disease, 030104 developmental biology, genetics, medical, 030217 neurology & neurosurgery
وصف الملف: STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e8242650886f34b5e055c94a2bd396aTest
http://hdl.handle.net/11585/851070Test