المؤلفون: Dossa, F, Cusimano, MC, Sutradhar, R, Metcalfe, K, Little, T, Lerner-Ellis, J, Eisen, A, Meschino, WS, Baxter, NN

العلاقة: pii: bmjopen-2018-025317; Dossa, F., Cusimano, M. C., Sutradhar, R., Metcalfe, K., Little, T., Lerner-Ellis, J., Eisen, A., Meschino, W. S. & Baxter, N. N. (2018). Real-world health services utilisation and outcomes after BRCA1 and BRCA2 testing in Ontario, Canada: the What Comes Next Cohort Study protocol. BMJ OPEN, 8 (9), https://doi.org/10.1136/bmjopen-2018-025317Test.; http://hdl.handle.net/11343/245428Test

الإتاحة: https://doi.org/10.1136/bmjopen-2018-025317Test
http://hdl.handle.net/11343/245428Test

المؤلفون: Aref-Eshghi, E, Bend, EG, Hood, RL, Schenkel, LC, Carere, DA, Chakrabarti, R, Nagamani, SCS, Cheung, SW, Campeau, PM, Prasad, C, Siu, VM, Brady, L, Tarnopolsky, MA, Callen, DJ, Innes, AM, White, SM, Meschino, WS, Shuen, AY, Pare, G, Bulman, DE, Ainsworth, PJ, Lin, H, Rodenhiser, DI, Hennekam, RC, Boycott, KM, Schwartz, CE, Sadikovic, B

العلاقة: pii: 10.1038/s41467-018-07193-y; Aref-Eshghi, E., Bend, E. G., Hood, R. L., Schenkel, L. C., Carere, D. A., Chakrabarti, R., Nagamani, S. C. S., Cheung, S. W., Campeau, P. M., Prasad, C., Siu, V. M., Brady, L., Tarnopolsky, M. A., Callen, D. J., Innes, A. M., White, S. M., Meschino, W. S., Shuen, A. Y., Pare, G. ,. Sadikovic, B. (2018). BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes. NATURE COMMUNICATIONS, 9 (1), https://doi.org/10.1038/s41467-018-07193-yTest.; http://hdl.handle.net/11343/253264Test

الإتاحة: https://doi.org/10.1038/s41467-018-07193-yTest
http://hdl.handle.net/11343/253264Test

المؤلفون: Wilson, BJ, Islam, R, Francis, JJ, Grimshaw, JM, Permaul, JA, Allanson, JE, Blaine, S, Graham, ID, Meschino, WS, Ramsay, CR, Carroll, JC

العلاقة: pii: ejhg201668; Wilson, B. J., Islam, R., Francis, J. J., Grimshaw, J. M., Permaul, J. A., Allanson, J. E., Blaine, S., Graham, I. D., Meschino, W. S., Ramsay, C. R. & Carroll, J. C. (2016). Supporting genetics in primary care: investigating how theory can inform professional education. EUROPEAN JOURNAL OF HUMAN GENETICS, 24 (11), pp.1541-1546. https://doi.org/10.1038/ejhg.2016.68Test.; http://hdl.handle.net/11343/245199Test

الإتاحة: https://doi.org/10.1038/ejhg.2016.68Test
http://hdl.handle.net/11343/245199Test

المؤلفون: Allotey, J, Whittle, R, Snell, KIE, Smuk, M, Townsend, R, Dadelszen, P, Heazell, AEP, Magee, L, Smith, GCS, Sandall, J, Thilaganathan, B, Zamora, J, Riley, RD, Khalil, A, Thangaratinam, S, Coomarasamy, A, Kwong, A, Savitri, AI, Salvesen, KÅ, Bhattacharya, S, Uiterwaal, CSPM, Staff, AC, Andersen, LB, Olive, EL, Redman, C, Sletner, L, Daskalakis, G, Macleod, M, Abdollahain, M, Ramírez, JA, Massé, J, Audibert, F, Magnus, PM, Jenum, AK, Baschat, A, Ohkuchi, A, McAuliffe, FM, West, J, Askie, LM, Mone, F, Farrar, D, Zimmerman, PA, Smits, LJM, Riddell, C, Kingdom, JC, Post, J, Illanes, SE, Holzman, C, Kuijk, SMJ, Carbillon, L, Villa, PM, Eskild, A, Chappell, L, Prefumo, F, Velauthar, L, Seed, P, Oostwaard, M, Verlohren, S, Poston, L, Ferrazzi, E, Vinter, CA, Nagata, C, Brown, M, Vollebregt, KC, Takeda, S, Langenveld, J, Widmer, M, Saito, S, Haavaldsen, C, Carroli, G, Olsen, J, Wolf, H, Zavaleta, N, Eisensee, I, Vergani, P, Lumbiganon, P, Makrides, M, Facchinetti, F, Sequeira, E, Gibson, R, Ferrazzani, S, Frusca, T, Norman, JE, Figueiró‐Filho, EA, Lapaire, O, Laivuori, H, Lykke, JA, Conde‐Agudelo, A, Galindo, A, Mbah, A, Betran, AP, Herraiz, I, Trogstad, L, Smith, GGS, Steegers, EAP, Salim, R, Huang, T, Adank, A, Zhang, J, Meschino, WS, Browne, JL, Allen, RE, Costa, F Da Silva, Klipstein‐Grobusch, K, Crowther, CA, Jørgensen, JS, Forest, J‐C, Rumbold, AR, Mol, BW, Giguère, Y, Kenny, LC, Ganzevoort, W, Odibo, AO, Myers, J, Yeo, SA, Goffinet, F, McCowan, L, Pajkrt, E, Teede, HJ, Haddad, BG, Dekker, G, Kleinrouweler, EC, LeCarpentier, É, Roberts, CT, Groen, H, Skråstad, RB, Heinonen, S, Eero, K, Anggraini, D, Souka, A, Cecatti, JG, Monterio, I, Pillalis, A, Souza, R, Hawkins, LA, Gabbay‐Benziv, R, Crovetto, F, Figuera, F, Jorgensen, L, Dodds, J, Patel, M, Aviram, A, Papageorghiou, A, Khan, K

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::da4508a1294cd8e2338c8359705f30c0Test
https://researchonline.lshtm.ac.uk/id/eprint/4662124/1/Allotey_etal_2021-External-validation-of-prognostic-models.pdfTest

المؤلفون: Stewart, DR, Huang, A, Faravelli, F, Anderlid, BM, Medne, L, Ciprero, K, Kaur, M, Rossi, E, Tenconi, R, Nordenskjold, M, Gripp, KW, Nicholson, L, Meschino, WS, Capua, E, Quarrell, OWJ, Flint, J, Irons, M, Giampietro, PF, Schowalter, DB, Zaleski, CA, Malacarne, M, Zackai, EH, Spinner, NB, Krantz, ID

المصدر: American journal of medical genetics. Part A. 128A(4):340-351

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1930157Test

المؤلفون: Rasasakaram E, Gibbons C, Bedford Hm, Mak-Tam E, Rashid S, Meschino Ws, Mei-Dan E, Cuckle H, Huang T, Priston M

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Internal medicine, medicine, Aneuploidy, medicine.disease, business, Preeclampsia, Primary screening, Test (assessment)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::526007e0028ba0bca6f804e29b293d01Test
https://doi.org/10.21203/rs.3.rs-492997/v1Test

المؤلفون: Riviere, JB, Mirzaa, GM, O'Roak, BJ, Beddaoui, M, Alcantara, D, Conway, RL, St-Onge, J, Schwartzentruber, JA, Gripp, KW, Nikkel, SM, Worthylake, T, Sullivan, CT, Ward, TR, Butler, HE, Kramer, NA, Albrecht, B, Armour, CM, Armstrong, L, Caluseriu, O, Cytrynbaum, C, Drolet, BA, Innes, AM, Lauzon, JL, Lin, AE, Verheijen - Mancini, Grazia, Meschino, WS, Reggin, JD, Saggar, AK, Lerman-Sagie, T, Uyanik, G, Weksberg, R, Zirn, B, Beaulieu, CL, Majewski, J, Bulman, DE, O'Driscoll, M, Shendure, J, Graham, JM, Boycott, KM, Dobyns, WB

المصدر: Riviere , JB , Mirzaa , GM , O'Roak , BJ , Beddaoui , M , Alcantara , D , Conway , RL , St-Onge , J , Schwartzentruber , JA , Gripp , KW , Nikkel , SM , Worthylake , T , Sullivan , CT , Ward , TR , Butler , HE , Kramer , NA , Albrecht , B , Armour , CM , Armstrong , L , Caluseriu , O , Cytrynbaum , C , Drolet , BA , Innes , AM , Lauzon , JL , Lin , AE , Verheijen - Mancini ....

الإتاحة: https://doi.org/10.1038/ng.2331Test
https://pure.eur.nl/en/publications/7a782c7e-154a-49f7-9d17-9a1c3084d668Test
http://hdl.handle.net/1765/57145Test

المؤلفون: STEWART DR, HUANG A, FARAVELLI F, ANDERLID BM, MEDNE L, CIPRERO K, KAUR M, ROSSI, ELENA, TENCONI R, NORDENSKJOLD M, GRIPP KW, NICHOLSON L, MESCHINO WS, CAPUA E, QUARRELL OW, FLINT J, IRONS M, GIAMPIETRO PF, SCHOWALTER DB, ZALESKI CA, MALACARNE M, ZACKAI EH, SPINNER NB, KRANTZ ID

المساهمون: Stewart, Dr, Huang, A, Faravelli, F, Anderlid, Bm, Medne, L, Ciprero, K, Kaur, M, Rossi, Elena, Tenconi, R, Nordenskjold, M, Gripp, Kw, Nicholson, L, Meschino, W, Capua, E, Quarrell, Ow, Flint, J, Irons, M, Giampietro, Pf, Schowalter, Db, Zaleski, Ca, Malacarne, M, Zackai, Eh, Spinner, Nb, Krantz, Id

مصطلحات موضوعية: "SUBTELOMERIC DELETIONS", "FLUORESCENT IN SITU HYBRIDIZATION", "MENTAL RETARDATION"

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/15264279; info:eu-repo/semantics/altIdentifier/wos/WOS:000222950000002; volume:128A; issue:4; firstpage:340; lastpage:351; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11571/114936Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-3342894655

الإتاحة: http://hdl.handle.net/11571/114936Test

المؤلفون: Carroll JC, Wilson BJ, Allanson J, Grimshaw J, Blaine SM, Meschino WS, Permaul JA, Graham ID

المصدر: Family Practice; Dec2011, Vol. 28 Issue 6, p615-623, 9p

المؤلفون: Huang, A, Stewart, DR, Faravelli, F, Anderlid, BM, Kaur, M, Rossi, E, Tenconi, R, Nordenskjold, M, Gripp, KW, Meschino, WS, Quarrell, OWJ, Irons, M, Zaleski, CA, Budarf, M, Zackai, EH, Spinner, NB, Krantz, ID

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS. 73(5):426-426

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:11984291Test