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

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

URL الوصول: https://doaj.org/article/d083d194f12d4f86a5a9ebd5e6cdedb2

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

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

URL الوصول: https://doaj.org/article/828a267ecd6848118ce44acc4986d2c7

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

Relation: https://openaccess.sgul.ac.uk/id/eprint/115131/6/s41591-023-02211-z.pdf; https://openaccess.sgul.ac.uk/id/eprint/115131/1/Greene_accepted%20version.pdf; 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-z SGUL Authors: Ostergaard, Pia

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

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

الاتاحة: http://dx.doi.org/10.1088/1755-1315/861/5/052062
https://iopscience.iop.org/article/10.1088/1755-1315/861/5/052062
https://iopscience.iop.org/article/10.1088/1755-1315/861/5/052062/pdf

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

الاتاحة: http://dx.doi.org/10.1088/1755-1315/833/1/012134
https://iopscience.iop.org/article/10.1088/1755-1315/833/1/012134
https://iopscience.iop.org/article/10.1088/1755-1315/833/1/012134/pdf

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

Relation: 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/2434/810095; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85084790314

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

المؤلفون: Greene D, 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

المصدر: Nature Medicine, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/290481; https://eprints.ncl.ac.uk/fulltext.aspx?url=290481/14B427CB-57C2-465E-9CF7-4ACB3D11B15D.pdf&pub_id=290481

الاتاحة: https://eprints.ncl.ac.uk/290481

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

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

الاتاحة: http://repub.eur.nl/pub/111659
https://doi.org/10.1038/s41436-018-0330-z

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

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/287515/287515.pdf; https://repository.ubn.ru.nl/handle/2066/287515

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/287515/287515.pdf
https://repository.ubn.ru.nl/handle/2066/287515
https://doi.org/10.1136/jmedgenet-2020-107623

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

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

الاتاحة: http://hdl.handle.net/2434/810093
https://doi.org/10.3390/genes11060672

المؤلفون: Sluijs, P.J. van der, Jansen, S., Vergano, S.A., Adachi-Fukuda, M., Alanay, Y., AlKindy, A., Baban, A., Bayat, A., Beck-Wodl, S., Berry, K., Bijlsma, E.K., Bok, L.A., Brouwer, A.F.J., Burgt, I. van der, Campeau, P.M., Canham, N., Chrzanowska, K., Chu, Y.W.Y., Chung, B.H.Y., Dahan, K., Rademaeker, M. de, Destree, A., Dudding-Byth, T., Earl, R., Elcioglu, N., Elias, E.R., Fagerberg, C., Gardham, A., Gener, B., Gerkes, E.H., Grasshoff, U., Haeringen, A. van, Heitink, K.R., Herkert, J.C., Hollander, N.S. den, Horn, D., Hunt, D., Kant, S.G., Kato, M., Kayserili, H., Kersseboom, R., Kilic, E., Krajewska-Walasek, M., Lammers, K., Laulund, L.W., Lederer, D., Lees, M., Lopez-Gonzalez, V., Maas, S., Mancini, G.M.S., Marcelis, C., Martinez, F., Maystadt, I., McGuire, M., Mckee, S., Mehta, S., Metcalfe, K., Milunsky, J., Mizuno, S., Moeschler, J.B., Netzer, C., Ockeloen, C.W., Oehl-Jaschkowitz, B., Okamoto, N., Olminkhof, S.N.M., Orellana, C., Pasquier, L., Pottinger, C., Riehmer, V., Robertson, S.P., Roifman, M., Rooryck, C., Ropers, F.G., Rosello, M., Ruivenkamp, C.A.L., Sagiroglu, M.S., Sallevelt, S.C.E.H., Calvo, A.S., Simsek-Kiper, P.O., Soares, G., Solaeche, L., Sonmez, F.M., Splitt, M., Steenbeek, D., Stegmann, A.P.A., Stumpel, C.T.R.M., Tanabe, S., Uctepe, E., Utine, G.E., Veenstra-Knol, H.E., Venkateswaran, S., Vilain, C., Vincent-Delorme, C., Vulto-van Silfhout, A.T., Wheeler, P., Wilson, G.N., Wilson, L.C., Wollnik, B., Kosho, T., Wieczorek, D., Eichler, E., Pfundt, R., Vries, B.B.A. de, Clayton-Smith, J., Santen, G.W.E.

المساهمون: Acibadem University Dspace

المصدر: GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-FISABIO. Repositorio Institucional de Producción Científica
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6e2a523486202ae0ea0c08bc1d0d21e7
https://hdl.handle.net/1887/122494

المؤلفون: Kosho, T, Uemura, T, Tanimura, M, Ohashi, H, Muroya, K, Ogata, T

مصطلحات موضوعية: Electronic letters

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/39/2/e7; http://dx.doi.org/10.1136/jmg.39.2.e7

الاتاحة: http://jmg.bmj.com/cgi/content/short/39/2/e7
https://doi.org/10.1136/jmg.39.2.e7

المؤلفون: van der Sluijs, Pleuntje J., Jansen, Sandra, Bijlsma, Emilia K., Eichler, E, Pfundt, R, de Vries, BBA, Clayton-Smith, J, Santen, GWE, Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Chu, Yoyo W. Y., Chung, Brain H. Y., Dahan, Karin, Vergano, Samantha A., De Rademaeker, Marjan, Destree, A, Dudding-Byth, Tracy, Earl, R, Elcioglu, N, Elias, ER, Fagerberg, C, Gardham, A, Gener, B, Gerkes, EH, Adachi-Fukuda, Miho, Grasshoff, U, van Haeringen, A, Heitink, KR, Herkert, JC, den Hollander, NS, Horn, D, Hunt, D, Kant, SG, Kato, M, Kayserili, H, Alanay, Yasemin, Kersseboom, R, Kilic, E, Krajewska-Walasek, M, Lammers, K, Laulund, LW, Lederer, D, Lees, M, Lopez-Gonzalez, V, Maas, S, Mancini, GMS, AlKindy, Adila, Marcelis, C, Martinez, F, Maystadt, I, McGuire, M, McKee, S, Mehta, S, Metcalfe, K, Milunsky, J, Mizuno, S, Moeschler, JB, Baban, Anwar, Netzer, C, Ockeloen, CW, Oehl-Jaschkowitz, B, Okamoto, N, Olminkhof, SNM, Orellana, C, Pasquier, L, Pottinger, C, Riehmer, V, Robertson, SP, Bayat, Allan, Roifman, M, Rooryck, C, Ropers, FG, Rosello, M, Ruivenkamp, CAL, Sagiroglu, MS, Sallevelt, SCEH, Sanchis Calvo, A, Simsek-Kiper, PO, Soares, G, Beck-Woedl, Stefanie, Solaeche, L, Sonmez, FM, Splitt, M, Steenbeek, D, Stegmann, APA, Stumpel, CTRM, Tanabe, S, Uctepe, E, Utine, GE, Veenstra-Knol, HE, Berry, Katherine, Venkateswaran, S, Vilain, C, Vincent-Delorme, C, Vulto-van Silfhout, AT, Wheeler, P, Wilson, GN, Wilson, LC, Wollnik, B, Kosho, T, Wieczorek, D

المساهمون: The University of Newcastle. Faculty of Health & Medicine, School of Medicine and Public Health

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

Relation: Genetics in Medicine Vol. 21, Issue 6, p. 1295-1307; http://hdl.handle.net/1959.13/1507324; uon:56005

الاتاحة: http://hdl.handle.net/1959.13/1507324

المؤلفون: Brady, AF, Demirdas, Serwet, Fournel-Gigleux, S, Ghali, N, Giunta, C, Kapferer-Seebacher, I, Kosho, T, Mendoza-Londono, R, Pope, MF, Rohrbach, M, Van Damme, T, Vandersteen, A, van Mourik, C, Voermans, N, Zschocke, J, Malfait, F

المصدر: Brady , AF , Demirdas , S , Fournel-Gigleux , S , Ghali , N , Giunta , C , Kapferer-Seebacher , I , Kosho , T , Mendoza-Londono , R , Pope , MF , Rohrbach , M , Van Damme , T , Vandersteen , A , van Mourik , C , Voermans , N , Zschocke , J & Malfait , F 2017 , ' The Ehlers-Danlos Syndromes, Rare Types ' , American Journal of Medical Genetics, Part C: Seminars in Medical Genetics , vol. 175 , no. 1 , pp. 70-115 . https://doi.org/10.1002/ajmg.c.31550

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/4677eb8f-6b37-41bf-aa92-98210e9defe8
https://doi.org/10.1002/ajmg.c.31550
http://hdl.handle.net/1765/98894

المؤلفون: Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J.M., Brady, A.F., Burrows, N.P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., Backer, J. De, Paepe, A. De, Fournel-Gigleux, S., Frank, M., Ghali, N., Giunta, C., Grahame, R., Hakim, A., Jeunemaitre, X., Johnson, D., Juul-Kristensen, B., Kapferer-Seebacher, I., Kazkaz, H., Kosho, T., Lavallee, M.E., Levy, H., Mendoza-Londono, R., Pepin, M., Pope, F.M., Reinstein, E., Robert, L., Rohrbach, M., Sanders, L., Sobey, G.J., Damme, T. Van, Vandersteen, A., Mourik, C. van, Voermans, N.C., Wheeldon, N., Zschocke, J., Tinkle, B.

المصدر: American Journal of Medical Genetics Part C : Seminars in Medical Genetics, 175, 1, pp. 8-26

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

Relation: http://hdl.handle.net/2066/176013

الاتاحة: http://hdl.handle.net/2066/176013
https://doi.org/10.1002/ajmg.c.31552

المؤلفون: Kondo, Y., Miyazaki, D., Nakamura, K., Sato, S., Ohara, S., Yamaguchi, T., Ishikawa, M., Wakui, K., Kosho, T., Fukushima, Y., Sekijima, Y., Yoshida, K.

المصدر: Journal of the Neurological Sciences ; volume 381, page 307 ; ISSN 0022-510X

الاتاحة: http://dx.doi.org/10.1016/j.jns.2017.08.873
https://api.elsevier.com/content/article/PII:S0022510X17313709?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022510X17313709?httpAccept=text/plain

المؤلفون: Matsuno, A., Kodaira, M., Miyazaki, D., Kamiya, M., Yamaguchi, T., Kosho, T., Sekijima, Y.

المصدر: Journal of the Neurological Sciences ; volume 381, page 457 ; ISSN 0022-510X

الاتاحة: http://dx.doi.org/10.1016/j.jns.2017.08.3498
https://api.elsevier.com/content/article/PII:S0022510X17339989?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022510X17339989?httpAccept=text/plain

المؤلفون: Yoshinaga, T., Hineno, A., Nakamura, K., Yamaguchi, T., Yoshida, K., Kosho, T., Sekijima, Y.

المصدر: Journal of the Neurological Sciences ; volume 381, page 896 ; ISSN 0022-510X

الاتاحة: http://dx.doi.org/10.1016/j.jns.2017.08.2523
https://api.elsevier.com/content/article/PII:S0022510X17330204?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0022510X17330204?httpAccept=text/plain

المؤلفون: Sousa S. B., Hennekam R. C., Abdul-Rahman O., Alders M., Azzarello-Burri S., Bottani A., Bowdin S., Castori M., Cormier-Daire V., Deardorff M., Del Campo Casanelles M., Devriendt K., Fauth C., Filges I., Fryer A., Garavelli L., Gillessen-Kaesback G., Hall B., Hirofumi O., Holder S., Hoyer J., Jenkins L., Klapeki J., Krajewska-Walasek M., Kosho T., Kuechler A., MacDermot K., Magee A., Mari F., Mathieu-Dramard M., Napier M., Perez-Jurado L. A., Picard F. M., Morin G., Murday V., Pilch J., Ronan A., Rosser E., Santen G. W. E., Scott R., Selicorni A., Shannon N., Santos-Simarro F., Stewart H., van den Boogaard M. -J., Vilain C., Vermeesch J., Vogels A., Wakeling E., Wieczorek D., Yesil G., Zuffardi O., Zweier C.

المساهمون: Sousa, S. B., Hennekam, R. C., Abdul-Rahman, O., Alders, M., Azzarello-Burri, S., Bottani, A., Bowdin, S., Castori, M., Cormier-Daire, V., Deardorff, M., Del Campo Casanelles, M., Devriendt, K., Fauth, C., Filges, I., Fryer, A., Garavelli, L., Gillessen-Kaesback, G., Hall, B., Hirofumi, O., Holder, S., Hoyer, J., Jenkins, L., Klapeki, J., Krajewska-Walasek, M., Kosho, T., Kuechler, A., Macdermot, K., Magee, A., Mari, F., Mathieu-Dramard, M., Napier, M., Perez-Jurado, L. A., Picard, F. M., Morin, G., Murday, V., Pilch, J., Ronan, A., Rosser, E., Santen, G. W. E., Scott, R., Selicorni, A., Shannon, N., Santos-Simarro, F., Stewart, H., van den Boogaard, M. -J., Vilain, C., Vermeesch, J., Vogels, A., Wakeling, E., Wieczorek, D., Yesil, G., Zuffardi, O., Zweier, C.

مصطلحات موضوعية: BAF (SWI/SNF) complex, Genotype, Intellectual disability, Natural history, Nicolaides-baraitser syndrome, Phenotype, SMARCA2, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, Epilepsy, Face, Facie, Foot Deformities, Congenital, Genetic Association Studie, Hair, Human, Hypotrichosi, Skin Abnormalitie, Transcription Factor, Young Adult, Mutation

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25169058; info:eu-repo/semantics/altIdentifier/wos/WOS:000342343200007; volume:166; issue:3; firstpage:302; lastpage:314; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/11365/1078710; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908617685; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4876

الاتاحة: http://hdl.handle.net/11365/1078710
https://doi.org/10.1002/ajmg.c.31409
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4876

المؤلفون: Kosho T., Okamoto N., Imai Y., Ohashi H., van Eerde A. M., Chrzanowska K., Clayton-Smith J., Kingston H., Mari F., Aggarwal S., Mowat D., Niikawa N., Hiraki Y., Matsumoto N., Fukushima Y., Josifova D., Dean J., Smigiel R., Sakazume S., Silengo M., Tinschert S., Kawame H., Yano S., Yamagata T., van Bon B. W. M., Vulto-van Silfhout A. T., Ben-Omran T., Bigoni S., Alanay Y., Miyake N., Tsurusaki Y., Santen G. W. E., Wieczorek D., Wollnik B., Hennekam R. C. M.

المساهمون: Kosho, T., Okamoto, N., Imai, Y., Ohashi, H., van Eerde, A. M., Chrzanowska, K., Clayton-Smith, J., Kingston, H., Mari, F., Aggarwal, S., Mowat, D., Niikawa, N., Hiraki, Y., Matsumoto, N., Fukushima, Y., Josifova, D., Dean, J., Smigiel, R., Sakazume, S., Silengo, M., Tinschert, S., Kawame, H., Yano, S., Yamagata, T., van Bon, B. W. M., Vulto-van Silfhout, A. T., Ben-Omran, T., Bigoni, S., Alanay, Y., Miyake, N., Tsurusaki, Y., Santen, G. W. E., Wieczorek, D., Wollnik, B., Hennekam, R. C. M.

مصطلحات موضوعية: ARID1A, BAF (mSWI/SNF) complex, Coffin-siris syndrome, Intellectual disability (ID), SMARCA4, SMARCB1, SMARCE1, Abnormalities, Multiple, Adolescent, Child, Preschool, Chromosomal Proteins, Non-Histone, DNA Helicase, DNA-Binding Protein, Face, Female, Genetic Association Studie, Hand Deformities, Congenital, Human, Intellectual Disability, Male, Micrognathism, Mutation, Neck, Nuclear Protein, SMARCB1 Protein, Toe

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/25168959; info:eu-repo/semantics/altIdentifier/wos/WOS:000342343200004; volume:166; issue:3; firstpage:262; lastpage:275; numberofpages:14; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/11365/1078708; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84908615607; http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4876

الاتاحة: http://hdl.handle.net/11365/1078708
https://doi.org/10.1002/ajmg.c.31407
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552-4876