المؤلفون: Tesi, B., Boileau, C., Boycott, K. M., Canaud, G., Caulfield, M., Choukair, D., Hill, S., Spielmann, M., Wedell, A., Wirta, V., Nordgren, Ann, 1964, Lindstrand, A.

المصدر: Journal of Internal Medicine. 294(4):397-412

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, data sharing, genome sequencing, gene therapy, molecular diagnosis, precision medicine, rare diseases

الوصول الحر: https://gup.ub.gu.se/publication/327856Test

المؤلفون: Lloyd K. C. K., Adams D. J., Baynam G., Beaudet A. L., Bosch F., Boycott K. M., Braun R. E., Caulfield M., Cohn R., Dickinson M. E., Dobbie M. S., Flenniken A. M., Flicek P., Galande S., Gao X., Grobler A., Heaney J. D., Herault Y., De Angelis M. H., Lupski J. R., Lyonnet S., Mallon A. -M., Mammano F., MacRae C. A., McInnes R., McKerlie C., Meehan T. F., Murray S. A., Nutter L. M. J., Obata Y., Parkinson H., Pepper M. S., Sedlacek R., Seong J. K., Shiroishi T., Smedley D., Tocchini-Valentini G., Valle D., Wang C. -K. L., Wells S., White J., Wurst W., Xu Y., Brown S. D. M.

المساهمون: Lloyd, K. C. K., Adams, D. J., Baynam, G., Beaudet, A. L., Bosch, F., Boycott, K. M., Braun, R. E., Caulfield, M., Cohn, R., Dickinson, M. E., Dobbie, M. S., Flenniken, A. M., Flicek, P., Galande, S., Gao, X., Grobler, A., Heaney, J. D., Herault, Y., De Angelis, M. H., Lupski, J. R., Lyonnet, S., Mallon, A. -M., Mammano, F., Macrae, C. A., Mcinnes, R., Mckerlie, C., Meehan, T. F., Murray, S. A., Nutter, L. M. J., Obata, Y., Parkinson, H., Pepper, M. S., Sedlacek, R., Seong, J. K., Shiroishi, T., Smedley, D., Tocchini-Valentini, G., Valle, D., Wang, C. -K. L., Wells, S., White, J., Wurst, W., Xu, Y., Brown, S. D. M.

مصطلحات موضوعية: MOUSE, VARIANTS

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32008577; info:eu-repo/semantics/altIdentifier/wos/WOS:000511901200001; volume:21; issue:1; firstpage:18; journal:GENOME BIOLOGY; http://hdl.handle.net/11577/3339752Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078863301; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-020-1931-9Test

الإتاحة: https://doi.org/10.1186/s13059-020-1931-9Test
http://hdl.handle.net/11577/3339752Test

المؤلفون: Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), Innes, A. M. (A. Micheil)

مصطلحات موضوعية: Dubowitz syndrome, exome sequencing, genetic heterogeneity, genome sequencing, microarray

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe202301235225Test

المؤلفون: Chelban V., Wilson M. P., Warman Chardon J., Vandrovcova J., Zanetti M. N., Zamba-Papanicolaou E., Efthymiou S., Pope S., Conte M. R., Abis G., Liu Y. -T., Tribollet E., Haridy N. A., Botia J. A., Ryten M., Nicolaou P., Minaidou A., Christodoulou K., Kernohan K. D., Eaton A., Osmond M., Ito Y., Bourque P., Jepson J. E. C., Bello O., Bremner F., Cordivari C., Reilly M. M., Foiani M., Heslegrave A., Zetterberg H., Heales S. J. R., Wood N. W., Rothman J. E., Boycott K. M., Mills P. B., Clayton P. T., Houlden H., Kriouile Y., Khorassani M. E., Aguennouz M., Groppa S., Marinova Karashova B., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Di Rosa G., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., van den Maagdenberg A. M. J. M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Rothman J., Giunti P., Salpietro V., Oconnor E., Kullmann D., Kaiyrzhanov R., Sullivan R., Khan A. M., Yau W. Y., Hostettler I., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Torti E., Zollo M., Heimer G., Dauvilliers Y. A., Striano P., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Sherifa H., Rizig M., Okubadejo N. U., Ojo O. O., Oshinaike O. O., Wahab K., Bello A. H., Abubakar S., Obiabo Y., Nwazor E., Ekenze O., Williams U., Iyagba A., Taiwo L., Komolafe M., Oguntunde O., Pchelina S., Senkevich K., Haridy N., Shashkin C., Zharkynbekova N., Koneyev K., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Rossi S., Silvestri G., Bourinaris T., Xiromerisiou G., Fidani L., Spanaki C., Tucci A.

المساهمون: Chelban, V., Wilson, M. P., Warman Chardon, J., Vandrovcova, J., Zanetti, M. N., Zamba-Papanicolaou, E., Efthymiou, S., Pope, S., Conte, M. R., Abis, G., Liu, Y. -T., Tribollet, E., Haridy, N. A., Botia, J. A., Ryten, M., Nicolaou, P., Minaidou, A., Christodoulou, K., Kernohan, K. D., Eaton, A., Osmond, M., Ito, Y., Bourque, P., Jepson, J. E. C., Bello, O., Bremner, F., Cordivari, C., Reilly, M. M., Foiani, M., Heslegrave, A., Zetterberg, H., Heales, S. J. R., Wood, N. W., Rothman, J. E., Boycott, K. M., Mills, P. B., Clayton, P. T., Houlden, H., Kriouile, Y., Khorassani, M. E., Aguennouz, M., Groppa, S., Marinova Karashova, B., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Di Rosa, G., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., van den Maagdenberg, A. M. J. M., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Giunti, P., Salpietro, V., Oconnor, E., Kullmann, D., Kaiyrzhanov, R., Sullivan, R., Khan, A. M., Yau, W. Y., Hostettler, I., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C.

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Child, Preschool, Dietary Supplement, Female, Gene Regulatory Network, Human, Male, Mutation, Polyneuropathie, Pyridoxal Kinase, Pyridoxal Phosphate, Treatment Outcome, Vitamin B Complex

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31187503; info:eu-repo/semantics/altIdentifier/wos/WOS:000473919500001; volume:86; issue:2; firstpage:225; lastpage:240; numberofpages:16; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/11584/349343Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068354982

الإتاحة: https://doi.org/10.1002/ana.25524Test
https://hdl.handle.net/11584/349343Test

المؤلفون: Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

المساهمون: Alberta Children's Hospital Research Institute, Alberta Children’s Hospital Foundation, NINDS, NHGRI, NIH Deputy Director for Intramural Research, NIH Clinical Center, Broad Center for Mendelian Genomics, National Heart, Lung and Blood Institute, National Eye Institute, Genome Canada, Ontario Genomics Institute, Canadian Institutes of Health Research, Ontario Research Fund, Genome Alberta, Genome British Columbia, Genome Quebec, owa Wellstone Muscular Dystrophy Cooperative Research Center, Children's Hospital of Eastern Ontario Foundation, Queen Elizabeth II Graduate Scholarship, Alberta Children’s Hospital Research Institute Graduate Studentship, Natural Sciences and Engineering Research Council of Canada

المصدر: Acta Neuropathologica ; volume 138, issue 6, page 1013-1031 ; ISSN 0001-6322 1432-0533

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1007/s00401-019-02059-zTest

المؤلفون: Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, Anthony J., Brudno, M., Carracedo, A., den Dunnen, JT, Dyke, S. O. M., Estivill, X., Goldblatt, J., Gonthier, C., Groft, SC, Gut, I., Hamosh, A., Hieter, P., Höhn, S., Hurles, M. E., Kaufmann, P., Knoppers, B. M., Krischer, J. P., Macek, M., Matthijs, G., Olry, A., Parker, S., Paschall, J., Philippakis, A .A., Rehm, H. L., Robinson, P. N., Sham, P-C., Stefanov, R., Taruscio, D., Unni, D., Vanstone, M. R., Zhang, F., Brunner, H., Bamshad, M. J., Lochmüller, H.

مصطلحات موضوعية: IRDiRC, Matchmaker Exchange, disease modeling, gene discovery, genome sequencing, ontologies, rare diseases, solving the unsolved, transcriptome sequencing, Databases, Factual, Exome, Genome, Human, Humans, International Cooperation

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/28475856Test; American Journal of Human Genetics, 2017, 100 (5), pp. 695-705; https://www.sciencedirect.com/science/article/pii/S0002929717301477?via%3DihubTest; http://hdl.handle.net/2381/42090Test; S0002-9297(17)30147-7

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.04.003Test
https://www.sciencedirect.com/science/article/pii/S0002929717301477?via%3DihubTest
http://hdl.handle.net/2381/42090Test

المؤلفون: Mears, A. J., Schock, S. C., Hadwen, J., Putos, S., Dyment, D., Boycott, K. M., MacKenzie, Alex

المصدر: npj Genomic Medicine ; volume 2, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-017-0018-3Test
https://www.nature.com/articles/s41525-017-0018-3Test
https://www.nature.com/articles/s41525-017-0018-3.pdfTest

المؤلفون: Dyke, S. O., Philippakis, A. A., Rambla De Argila, J., Paltoo, D. N., Luetkemeier, E. S., Knoppers, B. M., Brookes, Anthony Joseph, Spalding, J. D., Thompson, M., Roos, M., Boycott, K. M., Brudno, M. S., Hurles, M., Rehm, H. L., Matern, A., Fiume, M., Sherry, S. T.

مصطلحات موضوعية: Health services research, Genomic medicine, Ontologies, Genomic databases, Genome analysis, Genomic libraries, Global health, Archives

العلاقة: http://www.ncbi.nlm.nih.gov/pubmed/26796797Test; PLoS Genet, 2016, 12 (1), e1005772; http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005772Test; http://hdl.handle.net/2381/37401Test; PGENETICS-D-15-02164

الإتاحة: https://doi.org/10.1371/journal.pgen.1005772Test
http://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1005772Test
http://hdl.handle.net/2381/37401Test

المؤلفون: 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.

المساهمون: 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.

مصطلحات موضوعية: 1p36, distal 1p36 deletion syndrome, DNA methylome analysi, episignature, genotype-phenotype correlation, neurodevelopmental disorder, obesity, proximal 1p36 deletion syndrome, SPEN, X chromosome, Adolescent, Autism Spectrum Disorder, Child, Preschool, Chromosome Deletion, Chromosome Disorder, Chromosomes, Human, Pair 1, DNA Methylation, DNA-Binding Protein, Epigenesis, Genetic, Female, Haploinsufficiency, Intellectual Disability, Male, Phenotype, RNA-Binding Protein

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33596411; info:eu-repo/semantics/altIdentifier/wos/WOS:000629143200015; volume:108; issue:3; firstpage:502; lastpage:516; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/2993648Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101770406; https://www.sciencedirect.com/science/article/pii/S000292972100015X?via=ihubTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008487Test/

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.01.015Test
http://hdl.handle.net/11368/2993648Test
https://www.sciencedirect.com/science/article/pii/S000292972100015X?via=ihubTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8008487Test/

المؤلفون: Lonnqvist, T., Tyynismaa, H., Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Maie, W., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. L., Shcherbii, M., Estrada-Cuzcano, A., Atkinson, D., Hartley, T., Tetreault, M., Cuppen, I., van der Pol, W. L., Candayan, A., Battaloglu, E., van Gassen, K. L. I., van den Boogaard, M. H., Boycott, K. M., Kauppi, L., Jordanova, A., Parman, Y.

المساهمون: University Of Helsinki ,, 154878

مصطلحات موضوعية: GENETİK VE HAYAT, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıbbi Genetik, Yaşam Bilimleri, Sitogenetik, Temel Bilimler, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri

العلاقة: Ylikallio E., Woldegebriel R., Tumiati M., Isohanni P., Ryan M. M. , Stark Z., Maie W., Sawyer S. L. , Bell K. M. , Oshlack A., et al., "MCM3AP in recessive axonal neuropathy and mild intellectual disability", 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.40-41; vv_1032021; av_ac27ee70-e18e-46b0-8f23-4d9a2ecefa19; http://hdl.handle.net/20.500.12627/114889Test; 26

الإتاحة: https://doi.org/20.500.12627/114889Test
https://hdl.handle.net/20.500.12627/114889Test