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1دورية أكاديمية
المؤلفون: Campeau, Philippe M., Kasperaviciute, Dalia, Lu, James T., Burrage, Lindsay C., Kim, Choel, Hori, Mutsuki, Powell, Berkley R., Stewart, Fiona, Félix, Têmis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D.V., Begleiter, Michael L., De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L., Repetto, Gabriela M., Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C., Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C., Gibbs, Richard A., Lee, Brendan H., Sisodiya, Sanjay M.
وصف الملف: text
العلاقة: http://eprints.gla.ac.uk/122442/1/122442.pdfTest; Campeau, P. M. et al. (2014) The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurology , 13(1), pp. 44-58. (doi:10.1016/S1474-4422(13)70265-5 ) (PMID:24291220) (PMCID:PMC3895324)
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2دورية أكاديمية
المؤلفون: Campeau, Philippe M., Kasperaviciute, Dalia, Lu, James T., Burrage, Lindsay C., Kim, Choel, Hori, Mutsuki, Powell, Berkley R., Stewart, Fiona, Felix, Temis Maria, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Huelya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal D. V., Begleiter, Michael L., De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi L., Repetto, Gabriela M., Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newman, William G., Bhaskar, Sanjeev S., Dickerson, Jonathan E., Kerr, Bronwyn, Banka, Siddharth, Giltay, Jacques C., Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul C., Gibbs, Richard A., Lee, Brendan H., Sisodiya, Sanjay M.
المصدر: Campeau , P M , Kasperaviciute , D , Lu , J T , Burrage , L C , Kim , C , Hori , M , Powell , B R , Stewart , F , Felix , T M , van den Ende , J , Wisniewska , M , Kayserili , H , Rump , P , Nampoothiri , S , Aftimos , S , Mey , A , Nair , L D V , Begleiter , M L , De Bie , I , Meenakshi , G , Murray , M L , Repetto , G ....
مصطلحات موضوعية: MENTAL-RETARDATION, INFANTILE SEIZURES, FOCAL EPILEPSY, MUTATIONS, DEAFNESS, DISORDERS, PROTEINS, SPECTRUM, DOMAIN
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/S1474-4422Test(13)70265-5
https://hdl.handle.net/11370/3b9a6aef-86b8-4251-8cd3-d24aeb659813Test
https://research.rug.nl/en/publications/3b9a6aef-86b8-4251-8cd3-d24aeb659813Test
https://pure.rug.nl/ws/files/118494557/The_genetic_basis_of_DOORS_syndrome_an_exome_sequencing_study.pdfTest -
3دورية أكاديمية
المؤلفون: Zhu, Jun, Qiu, Jun, Magrane, Gregg, Abedalthagafi, Malak, Zanko, Andrea, Golabi, Mahin, Chehab, Farid F.
المساهمون: Liu, Chunming
المصدر: PLoS ONE ; volume 8, issue 9 ; ISSN 1932-6203
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4دورية أكاديمية
المؤلفون: Zhu, Jun, Qiu, Jun, Magrane, Gregg, Abedalthagafi, Malak, Zanko, Andrea, Golabi, Mahin, Chehab, Farid F.
المساهمون: Liu, Chunming
المصدر: PLoS ONE ; volume 7, issue 12, page e52353 ; ISSN 1932-6203
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5دورية أكاديمية
المؤلفون: Carey, John C., Golabi, Mahin, Korenberg, Julie R.
المصدر: American Journal of Medical Genetics Part A ; volume 155, issue 7, page 1509-1510 ; ISSN 1552-4825 1552-4833
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6دورية أكاديمية
المؤلفون: Rauen, Katherine A., Golabi, Mahin, Cotter, Philip D.
المصدر: Fertility and Sterility ; volume 79, issue 1, page 206-208 ; ISSN 0015-0282
مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine
الإتاحة: https://doi.org/10.1016/s0015-0282Test(02)04410-2
https://api.elsevier.com/content/article/PII:S0015028202044102?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0015028202044102?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Ming, Jeffrey E., Kaupas, Michelle E., Roessler, Erich, Brunner, Han G., Golabi, Mahin, Tekin, Mustafa, Stratton, Robert F., Sujansky, Eva, Bale, Sherri J., Muenke, Maximilian
العلاقة: https://zenodo.org/record/1232713Test; https://doi.org/10.1007/s00439-002-0800-9Test; oai:zenodo.org:1232713
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8دورية أكاديمية
المؤلفون: Zonana, Jonathan, Elder, Melissa E., Schneider, Lynda C., Orlow, Seth J., Moss, Celia, Golabi, Mahin, Shapira, Stuart K., Farndon, Peter A., Wara, Diane W., Emmal, Stephanie A., Ferguson, Betsy M.
المصدر: The American Journal of Human Genetics ; volume 67, issue 6, page 1555-1562 ; ISSN 0002-9297
مصطلحات موضوعية: Genetics (clinical), Genetics
الإتاحة: https://doi.org/10.1086/316914Test
https://api.elsevier.com/content/article/PII:S0002929707632236?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929707632236?httpAccept=text/plainTest -
9دورية أكاديمية
المؤلفون: Cleaver, James E, Weber, Christine A, Barkovich, Anthony J, Koch, Thomas K, Williams, Mary L, Price, Vera H, Chen, Emily, Packman, Seymour, Golabi, Mahin
المصدر: Journal of Investigative Dermatology ; volume 103, issue 5, page S154-S158 ; ISSN 0022-202X
مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry
الإتاحة: https://doi.org/10.1038/jid.1994.29Test
https://api.elsevier.com/content/article/PII:S0022202X1557512X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022202X1557512X?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Campeau, Philippe, Kasperaviciute, Dalia, Lu, James, Burrage, Lindsay, Kim, Choel, Hori, Mutsuki, Powell, Berkley, Stewart, Fiona, Têmis, Maria Félix, van den Ende, Jenneke, Wisniewska, Marzena, Kayserili, Hülya, Rump, Patrick, Nampoothiri, Sheela, Aftimos, Salim, Mey, Antje, Nair, Lal, Begleiter, Michael, De Bie, Isabelle, Meenakshi, Girish, Murray, Mitzi, Repetto, Gabriela, Golabi, Mahin, Blair, Edward, Male, Alison, Giuliano, Fabienne, Kariminejad, Ariana, Newmanab, William, Bhaskarab, Sanjeev, Dickersonab, Jonathan, Kerrab, Bronwyn, Bankaab, Siddharth, Giltay, Jacques, Wieczorek, Dagmar, Tostevin, Anna, Wiszniewska, Joanna, Cheung, Sau Wai, Hennekam, Raoul, Gibbs, Richard, Lee, Brendan, Sisodiya, Sanjay
مصطلحات موضوعية: Carrier proteins, genetics, Craniofacial abnormalities, Exome, Hand demormities congenital, intellectual disability
وصف الملف: application/pdf
العلاقة: Lancet Neurol. 2014 Jan;13(1):44-58; http://hdl.handle.net/11447/1012Test
الإتاحة: http://hdl.handle.net/11447/1012Test
