المؤلفون: Chopra, Maya, Savatt, Juliann M., Bingaman, Taylor I., Good, Molly E., Morgan, Alexis, Cooney, Caitlin, Rossel, Allison M., VanHoute, Bryanna, Cordova, Ineke, Mahida, Sonal, Lanzotti, Virginia, Baldridge, Dustin, Gurnett, Christina A., Piven, Joseph, Hazlett, Heather, Pomeroy, Scott L., Sahin, Mustafa, Payne, Philip R.O., Riggs, Erin Rooney, Constantino, John N., Gropman, A., Smith-Hicks, C.L., Neul, J., Agosto, J.A. Martinez-, German, K., Izumi, K., Abbeduto, L., Dawalt, L., Wangler, M., Wasserstein, M., Storch, Eric A., Cohen, J.S., Samaco, R., Molholm, S., Shankar, S., Srivastava, S., Walkley, S., Sveden, A., Dies, K., Gupta, Aditi, Oh, Inez, Hauck, Rachel

المساهمون: NIH

المصدر: Genetics in Medicine ; volume 26, issue 3, page 101035 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.101035Test
https://api.elsevier.com/content/article/PII:S1098360023010511?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010511?httpAccept=text/plainTest

المؤلفون: Agarwal, A.R., Tarawneh, O., Cohen, J.S., Gu, A., Moseley, K.F., DeBritz, J.N., Golladay, G.J., Thakkar, S.C.

المصدر: Osteoporosis International; Mar2024, Vol. 35 Issue 3, p495-503, 9p

مصطلحات موضوعية: HEALTH policy, RELATIVE medical risk, MEN'S health, STRATEGIC planning, CONFIDENCE intervals, MULTIVARIATE analysis, MEDICAL screening, OSTEOPOROSIS, RISK assessment, POPULATION health, LOGISTIC regression analysis, DISEASE risk factors, OLD age

مصطلحات جغرافية: UNITED States

المؤلفون: Kayumi, S., Pérez-Jurado, L.A., Palomares, M., Rangu, S., Sheppard, S.E., Chung, W.K., Kruer, M.C., Kharbanda, M., Amor, D.J., McGillivray, G., Cohen, J.S., García-Miñaúr, S., van Eyk, C.L., Harper, K., Jolly, L.A., Webber, D.L., Barnett, C.P., Santos-Simarro, F., Pacio-Míguez, M., Pozo, A.D.

المصدر: http://dx.doi.org/10.1016/j.gim.2022.08.006Test.

مصطلحات موضوعية: Autism, Cerebral palsy, Familial exudative vitreoretinopathy, Microcephaly, Wnt beta catenin signaling pathway, Humans, Genomics, Phenotype, beta Catenin, Intellectual Disability, Wnt Signaling Pathway, Neurodevelopmental Disorders

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/1099163Test; http://purl.org/au-research/grants/nhmrc/1155224Test; Genetics in Medicine, 2022; 24(11):2351-2366; https://hdl.handle.net/2440/138076Test; van Eyk, C.L. [0000-0003-0345-9944]; Jolly, L.A. [0000-0003-4538-2658]; Barnett, C.P. [0000-0003-1717-3824]; Gecz, J. [0000-0002-7884-6861]; Corbett, M.A. [0000-0001-9298-3072]

الإتاحة: https://doi.org/10.1016/j.gim.2022.08.006Test
https://hdl.handle.net/2440/138076Test

المؤلفون: Johannesen, K.M., Gardella, E., Gjerulfsen, C.E., Bayat, A., Rouhl, R.P.W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K.J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denomme-Pichon, A.S., Coubes, C., Larson, A., Esser, M.J., Appendino, J.P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J.S., Naidu, S.R., Collier, A., Brilstra, E.H., Li, M.H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C.

المصدر: Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre , L , Garde , A , Moutton , S , Tran-Mau-Them , F , Denomme-Pichon , A S , Coubes , C , Larson , A , Esser , M J , Appendino , J P , Al-Hertani , W ....

مصطلحات موضوعية: POSTNATAL BRAIN-DEVELOPMENT, DE-NOVO MUTATIONS, CLASSIFICATION, PHENOTYPE, ALPHA, DELINEATION, EPILEPSIES, MORTALITY, FEATURES

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/4020e32d-88c6-40a2-970d-ba1b2809b360Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000613Test
https://cris.maastrichtuniversity.nl/en/publications/4020e32d-88c6-40a2-970d-ba1b2809b360Test

المؤلفون: Tremblay-Laganière, C., Maroofian, R., Nguyen, T.T.M., Karimiani, E.G., Kirmani, S., Akbar, F., Ibrahim, S., Afroze, B., Doosti, M., Ashrafzadeh, F., Babaei, M., Efthymiou, S., Christoforou, M., Sultan, T., Ladda, R.L., McLaughlin, H.M., Truty, R., Mahida, S., Cohen, J.S., Baranano, K., Ismail, F.Y., Patel, M.S., Lehman, A., Edmondson, A.C., Nagy, A., Walker, M.A., Mercimek-Andrews, S., Maki, Y., Sachdev, R., Macintosh, R., Palmer, E.E., Mancini, G.M.S., Barakat, T.S., Steinfeld, R., Rüsch, C.T., Stettner, G.M., Wagner, M., Wortmann, S.B., Kini, U., Brady, A.F., Stals, K.L., Ismayilova, N., Ellard, S., Bernardo, D., Nugent, K., McLean, S.D., Antonarakis, S.E., Houlden, H., Kinoshita, T., Campeau, P.M., Murakami, Y.

المصدر: Genet. Med. 23, 1873-1881 (2021)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34113002; info:eu-repo/semantics/altIdentifier/wos/WOS:000659837100001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62258Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-021-01215-9Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=62258Test

المؤلفون: Agarwal, A.R., Tarawneh, O., Cohen, J.S., Gu, A., Moseley, K.F., DeBritz, J.N., Golladay, G.J., Thakkar, S.C.

المصدر: Osteoporosis International ; ISSN 0937-941X 1433-2965

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1007/s00198-023-06956-8Test

المؤلفون: Powis, Z., Petrik, I., Cohen, J.S., Escolar, D., Burton, J., van Ravenswaaij‐Arts, C.M.A., Sival, D.A., Stegmann, A.P.A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S., Shinde, D.N.

المصدر: Clinical Genetics ; volume 93, issue 5, page 1030-1038 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13198Test

المؤلفون: Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

المصدر: Clinical Genetics ; volume 93, issue 4, page 752-761 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13132Test

المؤلفون: Acuna-Hidalgo, R. (Rocio), Deriziotis, P. (Pelagia), Steehouwer, M. (Marloes), Gilissen, C. (Christian), Graham, S.A. (Sarah A.), van Dam, S. (Sipko), Hoover-Fong, J. (Julie), Telegrafi, A.B. (Aida B.), Destrée, A. (Anne), Smigiel, R. (Robert), Lambie, L.A. (Lindsday A.), Kayserili, H. (Hülya), Altunoglu, U. (Umut), Lapi, E. (Elisabetta), Uzielli, M.L. (Maria Luisa), Aracena, M. (Mariana), Nur, B.G. (Banu G.), Mihci, E. (Ercan), Moreira, L.M.A. (Lilia M. A.), Borges Ferreira, V. (Viviane), Horovitz, D.D.G. (Dafne D. G.), da Rocha, K.M. (Katia M.), Jezela-Stanek, A. (Aleksandra), Brooks, A.S. (Alice), Reutter, H. (Heiko), Cohen, J.S. (Julie S.), Fatemi, A. (Ali), Smitka, M. (Martin), Grebe, T.A. (Theresa A.), Di Donato, N. (Nataliya), Deshpande, C. (Charu), Vandersteen, A.M. (Anthony M.), Marques Lourenço, C. (Charles), Dufke, A. (Andreas), Rossier, E. (Eva), Andre, G. (Gwenaelle), Baumer, A. (Alessandra), Spencer, C. (Careni), McGaughran, J., Franke, L. (Lude), Veltman, J.A. (Joris), Vries, B. (Boukje) de, Schinzel, A. (Albert), Fisher, S.E. (Simon), Hoischen, A. (Alex), Bon, B. (Bregje) van

المصدر: PL o S Genetics (Online) vol. 13 no. 3

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/98994Test; urn:hdl:1765/98994

الإتاحة: https://doi.org/10.1371/journal.pgen.1006683Test
http://repub.eur.nl/pub/98994Test

المؤلفون: Martin, S., Chamberlin, A., Shinde, D.N., Hempel, M., Strom, T.M., Schreiber, A., Johannsen, J., Ousager, L.B., Larsen, M.J., Hansen, L.K., Fatemi, A., Cohen, J.S., Lemke, J.R., Sørensen, K.P., Helbig, K.L., Lessel, D., Abou Jamra, R.

المصدر: Am. J. Hum. Genet. 101, 1013-1020 (2017)

مصطلحات موضوعية: Ampa Receptor, Gria4, Glur4, De Novo, Exome Sequencing, Intellectual Disability, Seizures, Speech Delay

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29220673; info:eu-repo/semantics/altIdentifier/wos/WOS:000417644500012; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52507Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.11.004Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52507Test