المؤلفون: Greene, D, Genomics England Research Consortium, Pirri, D, Frudd, K, Sackey, E, Al-Owain, M, Giese, APJ, Ramzan, K, Riaz, S, Yamanaka, I, Boeckx, N, Thys, C, Gelb, BD, Brennan, P, Hartill, V, Harvengt, J, Kosho, T, Mansour, S, Masuno, M, Ohata, T, Stewart, H, Taibah, K, Turner, CLS, Imtiaz, F, Riazuddin, S, Morisaki, T, Ostergaard, P, Loeys, BL, Morisaki, H, Ahmed, ZM, Birdsey, GM, Freson, K, Mumford, A, Turro, E

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115131/1/Greene_accepted%20version.pdfTest; Greene, D; Genomics England Research Consortium; Pirri, D; Frudd, K; Sackey, E; Al-Owain, M; Giese, APJ; Ramzan, K; Riaz, S; Yamanaka, I; et al. Greene, D; Genomics England Research Consortium; Pirri, D; Frudd, K; Sackey, E; Al-Owain, M; Giese, APJ; Ramzan, K; Riaz, S; Yamanaka, I; Boeckx, N; Thys, C; Gelb, BD; Brennan, P; Hartill, V; Harvengt, J; Kosho, T; Mansour, S; Masuno, M; Ohata, T; Stewart, H; Taibah, K; Turner, CLS; Imtiaz, F; Riazuddin, S; Morisaki, T; Ostergaard, P; Loeys, BL; Morisaki, H; Ahmed, ZM; Birdsey, GM; Freson, K; Mumford, A; Turro, E (2023) Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nat Med, 29 (3). pp. 679-688. ISSN 1546-170X https://doi.org/10.1038/s41591-023-02211-zTest SGUL Authors: Ostergaard, Pia

الإتاحة: https://doi.org/10.1038/s41591-023-02211-zTest
https://openaccess.sgul.ac.uk/id/eprint/115131Test/
https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115131/1/Greene_accepted%20version.pdfTest

المؤلفون: Uehara M, Nakamura Y, Takahashi J, Suzuki T, Iijima M, Arakawa Y, Ida K, Kosho T, Kato H

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 15, Pp 303-307 (2019)

مصطلحات موضوعية: Bone mineral density, Denosumab, Fracture, Prader-Willi syndrome, Osteoporosis, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/efficacy-of-denosumab-therapy-for-a-21-year-old-woman-with-prader-will-peer-reviewed-article-TCRMTest; https://doaj.org/toc/1178-203XTest

الوصول الحر: https://doaj.org/article/d083d194f12d4f86a5a9ebd5e6cdedb2Test

المؤلفون: Choi, H., Tani, K., Orita, K., Kosho, T., Suzuki, A.

المصدر: IOP Conference Series: Earth and Environmental Science ; volume 861, issue 5, page 052062 ; ISSN 1755-1307 1755-1315

الإتاحة: https://doi.org/10.1088/1755-1315/861/5/052062Test

المؤلفون: Orita, K, Tani, K, Suzuki, A, Kosho, T

المصدر: IOP Conference Series: Earth and Environmental Science ; volume 833, issue 1, page 012134 ; ISSN 1755-1307 1755-1315

الإتاحة: https://doi.org/10.1088/1755-1315/833/1/012134Test

المؤلفون: Cogne B., Latypova X., Senaratne L. D. S., Martin L., Koboldt D. C., Kellaris G., Fievet L., Le Meur G., Caldari D., Debray D., Nizon M., Frengen E., Bowne S. J., Buckley R. M., Aberdein D., Alves P. C., Barsh G. S., Bellone R. R., Bergstrom T. F., Boyko A. R., Brockman J. A., Casal M. L., Castelhano M. G., Distl O., Dodman N. H., Ellinwood N. M., Fogle J. E., Forman O. P., Garrick D. J., Ginns E. I., Haggstrom J., Harvey R. J., Hasegawa D., Haase B., Helps C. R., Hernandez I., Hytonen M. K., Kaukonen M., Kaelin C. B., Kosho T., Leclerc E., Lear T. L., Leeb T., Li R. H. L., Lohi H., Longeri M., Magnuson M. A., Malik R., Mane S. P., Munday J. S., Murphy W. J., Pedersen N. C., Rothschild M. F., Rusbridge C., Shapiro B., Stern J. A., Swanson W. F., Terio K. A., Todhunter R. J., Warren W. C., Wilcox E. A., Wildschutte J. H., Yu Y., Cadena E. L., Daiger S. P., Bujakowska K. M., Pierce E. A., Gorin M., Katsanis N., Bezieau S., Petersen-Jones S. M., Occelli L. M., Lyons L. A., Legeai-Mallet L., Sullivan L. S., Davis E. E., Isidor B.

المساهمون: B. Cogne, X. Latypova, L.D.S. Senaratne, L. Martin, D.C. Koboldt, G. Kellari, L. Fievet, G. Le Meur, D. Caldari, D. Debray, M. Nizon, E. Frengen, S.J. Bowne, R.M. Buckley, D. Aberdein, P.C. Alve, G.S. Barsh, R.R. Bellone, T.F. Bergstrom, A.R. Boyko, J.A. Brockman, M.L. Casal, M.G. Castelhano, O. Distl, N.H. Dodman, N.M. Ellinwood, J.E. Fogle, O.P. Forman, D.J. Garrick, E.I. Ginn, J. Haggstrom, R.J. Harvey, D. Hasegawa, B. Haase, C.R. Help, I. Hernandez, M.K. Hytonen, M. Kaukonen, C.B. Kaelin, T. Kosho, E. Leclerc, T.L. Lear, T. Leeb, R.H.L. Li, H. Lohi, M. Longeri, M.A. Magnuson, R. Malik, S.P. Mane, J.S. Munday, W.J. Murphy, N.C. Pedersen, M.F. Rothschild, C. Rusbridge, B. Shapiro, J.A. Stern, W.F. Swanson, K.A. Terio, R.J. Todhunter, W.C. Warren, E.A. Wilcox, J.H. Wildschutte, Y. Yu, E.L. Cadena, S.P. Daiger, K.M. Bujakowska, E.A. Pierce, M. Gorin, N. Katsani, S. Bezieau, S.M. Petersen-Jone, L.M. Occelli, L.A. Lyon, L. Legeai-Mallet, L.S. Sullivan, E.E. Davi, B. Isidor

مصطلحات موضوعية: feline genetic, hepatic fibrosi, KIF3B, kinesin, primary cilia, retinopathy, whole-exome sequencing, zebrafish, Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000539109000015; volume:106; issue:6; firstpage:893; lastpage:904; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/810095Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084790314

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.04.005Test
http://hdl.handle.net/2434/810095Test

المؤلفون: Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H

المصدر: Therapeutics and Clinical Risk Management, Vol Volume 14, Pp 1243-1246 (2018)

مصطلحات موضوعية: Denosumab, Fracture, Neurofibromatosis type I, Osteoporosis, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/efficacy-of-denosumab-therapy-for-neurofibromatosis-type-i-with-osteop-peer-reviewed-article-TCRMTest; https://doaj.org/toc/1178-203XTest

الوصول الحر: https://doaj.org/article/828a267ecd6848118ce44acc4986d2c7Test

المؤلفون: van der Sluijs, E.P.J. (Eline (P.J.)), Jansen, S. (Sandra), Vergano, S.A. (Samantha A.), Adachi-Fukuda, M. (Miho), Alanay, Y. (Yasemin), AlKindy, A. (Adila), Baban, A. (Anwar), Bayat, A. (Allan), Beck-Wödl, S. (Stefanie), Berry, K. (Katherine), Bijlsma, E.K. (Emilia), Bok, L.A. (Levinus), Brouwer, A.F.J. (Alwin F. J.), Burgt, I. (Ineke) van der, Campeau, P.M. (Philippe M.), Canham, N. (Natalie), Chrzanowska, K.H. (Krystyna), Chu, Y.W.Y. (Yoyo W. Y.), Chung, B.H.Y. (Brain H. Y.), Dahan, K. (Karin), De Rademaeker, M. (Marjan), Destrée, A. (Anne), Dudding-Byth, T. (Tracy), Earl, R. (Rachel), Elcioglu, N.H. (Nursel), Elias, E.R. (Ellen R.), Fagerberg, C. (Christina), Gardham, A. (Alice), Gener, B. (Blanca), Gerkes, E.H. (Erica H), Grasshoff, U. (Ute), Haeringen, A. (Arie) van, Heitink, K.R. (Karin R.), Herkert, J.C. (Johanna), Hollander, N.S. (Nicolette) den, Horn, D. (Denise), Hunt, D. (David), Kant, S.G. (Sarina), Kato, M. (Mitsuhiro), Kayserili, H. (Hülya), Kersseboom, R. (Rogier), Kilic, E. (Esra), Krajewska-Walasek, M. (Malgorzata), Lammers, K. (Kylin), Laulund, L.W. (Lone W.), Lederer, D. (Damien), Lees, M.M. (Melissa), López-González, V. (V.), Maas, S.M. (Saskia), Mancini, G.M.S. (Grazia), Marcelis, C.L.M. (Carlo), Martinez, F. (Francisco), Maystadt, I. (Isabelle), McGuire, M. (Marianne), McKee, S., Mehta, S. (Sarju), Metcalfe, K. (Kay), Milunsky, J.M. (Jeff), Mizuno, S. (Seiji), Moeschler, J.B. (John B.), Netzer, C. (Christian), Ockeloen, C. (Charlotte), Oehl-Jaschkowitz, B. (Barbara), Okamoto, N. (Nobuhiko), Olminkhof, S.N.M. (Sharon N. M.), Orellana, C. (Carmen), Pasquier, L. (Laurent), Pottinger, C. (Caroline), Riehmer, V. (Vera), Robertson, S.P. (Stephen), Roifman, M. (Maian), Rooryck, C. (Caroline), Ropers, F.G. (Fabienne G.), Rosello, M. (Monica), Ruivenkamp, C.A. (Claudia), Sagiroglu, M.S. (Mahmut S.), Sallevelt, S.C.E.H. (Suzanne), Sanchis Calvo, A. (Amparo), Simsek-Kiper, P.O. (P.), Soares, G. (Gabriela), Solaeche, L. (Lucia), Mujgan Sonmez, F. (Fatma), Splitt, M. (M.), Steenbeek, D. (Duco), Stegmann, A.P.A. (Alexander P. A.), Stumpel, C. (Connie), Tanabe, S. (Saori), Uctepe, E. (Eyyup), Utine, G.E. (G. Eda), Veenstra-Knol, H.E. (Hermine), Venkateswaran, S. (Sunita), Vilain, C. (Catheline), Vincent-Delorme, C. (Catherine), Vulto-van Silfhout, A.T. (Anneke), Wheeler, P. (Patricia), Wilson, G.N. (Golder N.), Wilson, L.C. (Louise), Wollnik, B. (Bernd), Kosho, T. (Tomoki), Wieczorek, D. (Dagmar), Eichler, E.E. (Evan), Pfundt, R. (Rolph), Vries, B. (Boukje) de, Clayton-Smith, J., Santen, G.W.E. (Gijs)

المصدر: Genetics in Medicine

مصطلحات موضوعية: ARID1B, bias, Coffin–Siris syndrome, intellectual disability

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/111659Test; urn:hdl:1765/111659

الإتاحة: https://doi.org/10.1038/s41436-018-0330-zTest
http://repub.eur.nl/pub/111659Test

المؤلفون: Minatogawa, M., Unzaki, A., Morisaki, Hiroko, Syx, D., Sonoda, T., Janecke, A.R., Slavotinek, A., Voermans, N.C., Miyake, Noriko, Kosho, T.

المصدر: Journal of Medical Genetics, 59, 9, pp. 865-877

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/287515/287515.pdfTest; https://repository.ubn.ru.nl/handle/2066/287515Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107623Test
https://repository.ubn.ru.nl//bitstream/handle/2066/287515/287515.pdfTest
https://repository.ubn.ru.nl/handle/2066/287515Test

المؤلفون: Minatogawa, M., Unzaki, A., Morisaki, H., Syx, D., Sonoda, T., Janecke, A.R., Slavotinek, A., Voermans, N.C., Lacassie, Y., Mendoza-Londono, R., Wierenga, K.J., Jayakar, P., Gahl, W.A., Tifft, C.J., Figuera, L.E., Hilhorst-Hofstee, Y., Maugeri, A., Ishikawa, K., Kobayashi, T., Aoki, Y., Ohura, T., Kawame, H., Kono, M., Mochida, K., Tokorodani, C., Kikkawa, K., Morisaki, T., Nakane, T., Kubo, A., Ranells, J.D., Migita, O., Sobey, G., Kaur, A., Ishikawa, M., Yamaguchi, T., Matsumoto, N., Malfait, F., Miyake, N., Kosho, T.

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: musculoskeletal diseases, human genetics

وصف الملف: application/pdf

العلاقة: https://jmg.bmj.com/content/jmedgenet/early/2021/12/15/jmedgenet-2020-107623.full.pdfTest; lumc-id: 122668091; https://hdl.handle.net/1887/3270974Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107623Test
https://hdl.handle.net/1887/3270974Test
https://jmg.bmj.com/content/jmedgenet/early/2021/12/15/jmedgenet-2020-107623.full.pdfTest

المؤلفون: Yu Y., Creighton E. K., Buckley R. M., Lyons L. A., Aberdein D., Alves P. C., Barsh G. S., Bellone R. R., Bergstrom T. F., Boyko A. R., Brockman J. A., Casal M. L., Castelhano M. G., Distl O., Dodman N. H., Ellinwood N. M., Fogle J. E., Forman O. P., Garrick D. J., Ginns E. I., Haggstrom J., Harvey R. J., Hasegawa D., Haase B., Helps C. R., Hernandez I., Hytonen M. K., Kaukonen M., Kaelin C. B., Kosho T., Leclerc E., Lear T. L., Leeb T., Li R. H. L., Lohi H., Longeri M., Magnuson M. A., Malik R., Mane S. P., Munday J. S., Murphy W. J., Pedersen N. C., Peterson-Jones S. M., Rothschild M. F., Rusbridge C., Shapiro B., Stern J. A., Swanson W. F., Terio K. A., Todhunter R. J., Warren W. C., Wilcox E. A., Wildschutte J. H.

المساهمون: Y. Y., C. E. K., B. R. M., L.L.A.9.L.C.L.A. Lyon, R.M. Buckley, D. Aberdein, P.C. Alve, G.S. Barsh, R.R. Bellone, T.F. Bergström, A.R. Boyko, J.A. Brockman, M.L. Casal, M.G. Castelhano, O. Distl, N.H. Dodman, N. Matthew Ellinwood, J.E. Fogle, O.P. Forman, D.J. Garrick, E.I. Ginn, J. Häggström, R.J. Harvey, D. Hasegawa, B. Haase, C.R. Help, I. Hernandez, M.K. Hytönen, M. Kaukonen, C.B. Kaelin, T. Kosho, E. Leclerc, T.L. Lear, T. Leeb, R.H.L. Li, H. Lohi, M.L. Longeri, M.A. Magnuson, R. Malik, S.P. Mane, J.S. Munday, W.J. Murphy, N.C. Pedersen, S.M. Peterson-Jone, M.F. Rothschild, C. Rusbridge, B. Shapiro, J.A. Stern, W.F. Swanson, K.A. Terio, R.J. Todhunter, W.C. Warren, E.A. Wilcox, J.H. Wildschutte, Y. Yu

مصطلحات موضوعية: BMP12, Brain malformation, Feline, Felis catu, Genetic, Genome-wide association study, Genomic, Mendelian trait, Neurodevelopment, Whole genome sequencing, Settore AGR/17 - Zootecnica Generale e Miglioramento Genetico

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000550922700001; volume:11; issue:6; firstpage:1; lastpage:15; numberofpages:15; journal:GENES; http://hdl.handle.net/2434/810093Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85087033347

الإتاحة: https://doi.org/10.3390/genes11060672Test
http://hdl.handle.net/2434/810093Test