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1تقرير
المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.
مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss
العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267Test; American journal of human genetics; PMC8546233
الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
https://rde.dspace-express.com/handle/11287/622267Test -
2دورية أكاديمية
المؤلفون: Maier R., Moser G., Chen G. -B., Ripke S., Coryell W., Potash J. B., Scheftner W. A., Shi J., Weissman M. M., Hultman C. M., Landen M., Levinson D. F., Kendler K. S., Smoller J. W., Wray N. R., Lee S. H., Absher D., Agartz I., Akil H., Amin F., Andreassen O. A., Anjorin A., Anney R., Arking D. E., Asherson P., Azevedo M. H., Backlund L., Badner J. A., Bailey A. J., Banaschewski T., Barchas J. D., Barnes M. R., Barrett T. B., Bass N., Battaglia A., Bauer M., Bayes M., Bellivier F., Bergen S. E., Berrettini W., Betancur C., Bettecken T., Biederman J., Binder E. B., Black D. W., Blackwood D. H. R., Bloss C. S., Boehnke M., Boomsma D. I., Breen G., Breuer R., Bruggeman R., Buccola N. G., Buitelaar J. K., Bunney W. E., Buxbaum J. D., Byerley W. F., Caesar S., Cahn W., Cantor R. M., Casas M., Chakravarti A., Chambert K., Choudhury K., Cichon S., Robert Cloninger C., Collier D. A., Cook E. H., Coon H., Cormand B., Cormican P., Corvin A., Coryell W. H., Craddock N., Craig D. W., Craig I. W., Crosbie J., Cuccaro M. L., Curtis D., Czamara D., Daly M. J., Datta S., Dawson G., Day R., De Geus E. J., Degenhardt F., Devlin B., Djurovic S., Donohoe G. J., Doyle A. E., Duan J., Dudbridge F., Duketis E., Ebstein R. P., Edenberg H. J., Elia J., Ennis S., Etain B., Fanous A., Faraone S. V., Farmer A. E., Nicol Ferrier I., Flickinger M., Fombonne E., Foroud T., Frank J., Franke B., Fraser C., Freedman R., Freimer N. B., Freitag C. M., Friedl M., Frisen L., Gallagher L., Gejman P. V., Georgieva L., Gershon E. S., Geschwind D. H., Giegling I., Gill M., Gordon S. D., Gordon-Smith K., Green E. K., Greenwood T. A., Grice D. E., Gross M., Grozeva D., Guan W., Gurling H., De Haan L., Haines J. L., Hakonarson H., Hallmayer J., Hamilton S. P., Hamshere M. L., Hansen T. F., Hartmann A. M., Hautzinger M., Heath A. C., Henders A. K., Herms S., Hickie I. B., Hipolito M., Hoefels S., Holmans P. A., Holsboer F., Hoogendijk W. J., Hottenga J. -J., Hus V., Ingason A., Ising M., Jamain S., Jones I., Jones L., Kahler A. K., Kahn R. S., Kandaswamy R., Keller M. C., Kelsoe J. R., Kennedy J. L., Kenny E., Kent L., Kim Y., Kirov G. K., Klauck S. M., Klei L., Knowles J. A., Kohli M. A., Koller D. L., Konte B., Korszun A., Krabbendam L., Krasucki R., Kuntsi J., Kwan P., Langstrom N., Lathrop M., Lawrence J., Lawson W. B., Leboyer M., Ledbetter D. H., Lee P. H., Lencz T., Lesch K. -P., Lewis C. M., Li J., Lichtenstein P., Lieberman J. A., Lin D. -Y., Linszen D. H., Liu C., Lohoff F. W., Loo S. K., Lord C., Lowe J. K., Lucae S., MacIntyre D. J., Madden P. A. F., Maestrini E., Magnusson P. K. E., Mahon P. B., Maier W., Malhotra A. K., Mane S. M., Martin C. L., Martin N. G., Mattheisen M., Matthews K., Mattingsdal M., McCarroll S. A., McGhee K. A., McGough J. J., McGrath P. J., McGuffin P., McInnis M. G., McIntosh A., McKinney R., McLean A. W., McMahon F. J., McMahon W. M., McQuillin A., Medeiros H., Medland S. E., Meier S., Melle I., Meng F., Meyer J., Middeldorp C. M., Middleton L., Milanova V., Miranda A., Monaco A. P., Montgomery G. W., Moran J. L., Moreno-De-Luca D., Morken G., Morris D. W., Morrow E. M., Moskvina V., Mowry B. J., Muglia P., Muhleisen T. W., Muller-Myhsok B., Murtha M., Myers R. M., Myin-Germeys I., Neale B. M., Nelson S. F., Nievergelt C. M., Nikolov I., Nimgaonkar V., Nolen W. A., Nothen M. M., Nurnberger J. I., Nwulia E. A., Nyholt D. R., O'Donovan M. C., O'Dushlaine C., Oades R. D., Olincy A., Oliveira G., Olsen L., Ophoff R. A., Osby U., Owen M. J., Palotie A., Parr J. R., Paterson A. D., Pato C. N., Pato M. T., Penninx B. W., Pergadia M. L., Pericak-Vance M. A., Perlis R. H., Pickard B. S., Pimm J., Piven J., Posthuma D., Poustka F., Propping P., Purcell S. M., Puri V., Quested D. J., Quinn E. M., Ramos-Quiroga J. A., Rasmussen H. B., Raychaudhuri S., Rehnstrom K., Reif A., Ribases M., Rice J. P., Rietschel M., Roeder K., Roeyers H., Rossin L., Rothenberger A., Rouleau G., Ruderfer D., Rujescu D., Sanders A. R., Sanders S. J., Santangelo S. L., Schachar R., Schalling M., Schatzberg A. F., Schellenberg G. D., Scherer S. W., Schork N. J., Schulze T. G., Schumacher J., Schwarz M., Scolnick E., Scott L. J., Sergeant J. A., Shilling P. D., Shyn S. I., Silverman J. M., Sklar P., Slager S. L., Smalley S. L., Smit J. H., Smith E. N., Sonuga-Barke E. J. S., St Clair D., State M., Steffens M., Steinhausen H. -C., Strauss J. S., Strohmaier J., Scott Stroup T., Sullivan P. F., Sutcliffe J., Szatmari P., Szelinger S., Thapar A., Thirumalai S., Thompson R. C., Todorov A. A., Tozzi F., Treutlein J., Tzeng J. -Y., Uhr M., van den Oord E. J. C. G., Van Grootheest G., Van Os J., Vicente A. M., Vieland V. J., Vincent J. B., Visscher P. M., Walsh C. A., Wassink T. H., Watson S. J., Weiss L. A., Werge T., Wienker T. F., Wiersma D., Wijsman E. M., Willemsen G., Williams N., Jeremy Willsey A., Witt S. H., Xu W., Young A. H., Yu T. W., Zammit S., Zandi P. P., Zhang P., Zitman F. G., Zollner S.
المساهمون: Maier R., Moser G., Chen G.-B., Ripke S., Coryell W., Potash J.B., Scheftner W.A., Shi J., Weissman M.M., Hultman C.M., Landen M., Levinson D.F., Kendler K.S., Smoller J.W., Wray N.R., Lee S.H., Absher D., Agartz I., Akil H., Amin F., Andreassen O.A., Anjorin A., Anney R., Arking D.E., Asherson P., Azevedo M.H., Backlund L., Badner J.A., Bailey A.J., Banaschewski T., Barchas J.D., Barnes M.R., Barrett T.B., Bass N., Battaglia A., Bauer M., Bayes M., Bellivier F., Bergen S.E., Berrettini W., Betancur C., Bettecken T., Biederman J., Binder E.B., Black D.W., Blackwood D.H.R., Bloss C.S., Boehnke M., Boomsma D.I., Breen G., Breuer R., Bruggeman R., Buccola N.G., Buitelaar J.K., Bunney W.E., Buxbaum J.D., Byerley W.F., Caesar S., Cahn W., Cantor R.M., Casas M., Chakravarti A., Chambert K., Choudhury K., Cichon S., Robert Cloninger C., Collier D.A., Cook E.H., Coon H., Cormand B., Cormican P., Corvin A., Coryell W.H., Craddock N., Craig D.W., Craig I.W., Crosbie J., Cuccaro M.L., Curtis D., Czamara D., Daly M.J., Datta S., Dawson G., Day R., De Geus E.J., Degenhardt F., Devlin B., Djurovic S., Donohoe G.J., Doyle A.E., Duan J., Dudbridge F., Duketis E., Ebstein R.P., Edenberg H.J., Elia J., Ennis S., Etain B., Fanous A., Faraone S.V.
مصطلحات موضوعية: Bipolar Disorder, Depressive Disorder, Major, Genetic Testing, Genetics, Medical, Human, Linear Model, Mental Disorder, Multifactorial Inheritance, Multivariate Analysi, Polymorphism, Single Nucleotide, Risk Assessment, Schizophrenia
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25640677; info:eu-repo/semantics/altIdentifier/wos/WOS:000349276700010; volume:96; issue:2; firstpage:283; lastpage:294; numberofpages:12; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11585/813925Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84925130699; https://www.sciencedirect.com/science/article/pii/S0002929714005126?via=ihubTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2014.12.006Test
http://hdl.handle.net/11585/813925Test
https://www.sciencedirect.com/science/article/pii/S0002929714005126?via=ihubTest -
3دورية أكاديمية
المؤلفون: Bhat, T. S., Teli, A. M., Beknalkar, S. A., Mane, S. M., Tibile, P. D., Patil, P. S., Kim, H. J., Shin, J. C.
المصدر: ECS Journal of Solid State Science & Technology; Jun2022, Vol. 11 Issue 6, p97-104, 8p
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4
المؤلفون: Jin, S. C., Lewis, S. A., Bakhtiari, S., Zeng, X., Sierant, M. C., Shetty, S., Nordlie, S. M., Elie, A., Corbett, M. A., Norton, B. Y., van Eyk, C. L., Haider, S., Guida, B. S., Magee, H., Liu, J. M., Pastore, S., Vincent, J. B., Brunstrom-Hernandez, J., Papavasileiou, A., Fahey, M. C., Berry, J. G., Harper, K., Zhou, C. C., Zhang, J. H., Li, B. Y., Heim, J., Webber, D. L., Frank, M. S. B., Xia, L., Xu, Y. R., Zhu, D. N., Zhang, B. H., Sheth, A. H., Knight, J. R., Castaldi, C., Tikhonova, I. R., Lopez-Giraldez, F., Keren, B., Whalen, S., Buratti, J., Doummar, D., Cho, M. G., Retterer, K., Millan, F., Wang, Y. G., Waugh, J. L., Rodan, L., Cohen, J. S., Fatemi, A., LinE, LinE, Phillips, J. P., Feyma, T., MacLennan, S. C., Vaughan, S., Crompton, K. E., Reid, S. M., Reddihough, D. S., Shang, Q., Gao, C., Novak, I., Badawi, N., Wilson, Y. A., McIntyre, S. J., Mane, S. M., Wang, Xiaoyang, 1965, Amor, D. J., Zarnescu, D. C., Lu, Q. S., Xing, Q. H., Zhu, C. L., Bilguvar, K., Padilla-Lopez, S., Lifton, R. P., Gecz, J., MacLennan, A. H., Kruer, M. C.
المصدر: Nature Genetics. 52(10)
مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, Genetics, Genetik, congenital heart-disease, copy-number variations, de-novo, intellectual, disability, truncating mutations, alk kinase, protein, brain, rare, phosphorylation, Genetics & Heredity
الوصول الحر: https://gup.ub.gu.se/publication/297233Test
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5دورية أكاديمية
المؤلفون: Tirmali, P. M., Mishra, D. K., Benglorkar, B. P., Mane, S. M., Kadam, S. L., Kulkarni, S. B.
المساهمون: University Grants Commission, New Delhi
المصدر: Journal of the Chinese Advanced Materials Society ; volume 6, issue 2, page 207-221 ; ISSN 2224-3682 2168-1031
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6مؤتمر
المؤلفون: Kadam, S. L., Padwal, P. M., Mane, S. M., Kulkarni, S. B.
المصدر: AIP Conference Proceedings ; ISSN 0094-243X
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7مؤتمر
المؤلفون: Mane, S. M., Tirmali, P. M., Kolekar, C. B., Kulkarni, S. B.
المصدر: AIP Conference Proceedings ; ISSN 0094-243X
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8دورية أكاديمية
المؤلفون: Padwal, P. M., Kadam, S. L., Mane, S. M., Kulkarni, S. B.
المساهمون: Board of Research in Nuclear Sciences
المصدر: Journal of Materials Science ; volume 51, issue 23, page 10499-10505 ; ISSN 0022-2461 1573-4803
مصطلحات موضوعية: Mechanical Engineering, Mechanics of Materials, General Materials Science
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9دورية أكاديمية
المؤلفون: Mane, S. M., Tirmali, P. M., Salunkhe, D. J., Joshi, P. B., Kolekar, C. B., Kulkarni, S. B.
المساهمون: University Grants Commission New Delhi
المصدر: Journal of Materials Science: Materials in Electronics ; volume 27, issue 7, page 7204-7210 ; ISSN 0957-4522 1573-482X
مصطلحات موضوعية: Electrical and Electronic Engineering, Condensed Matter Physics, Atomic and Molecular Physics, and Optics, Electronic, Optical and Magnetic Materials
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10دورية أكاديمية
المؤلفون: Tirmali, P. M., Mane, S. M., Patil, S. K., Kulkarni, S. B.
المساهمون: CEN, IITB under INUP which is sponsored by DIT, MCIT, Government of India
المصدر: Journal of Materials Science: Materials in Electronics ; volume 27, issue 5, page 4314-4320 ; ISSN 0957-4522 1573-482X
مصطلحات موضوعية: Electrical and Electronic Engineering, Condensed Matter Physics, Atomic and Molecular Physics, and Optics, Electronic, Optical and Magnetic Materials