المؤلفون: Dezoete, J Anne, MacArthur, Barton A, Aftimos, Salim

المصدر: New Zealand medical journal, 13 Jun 1997; v.110 n.1045:p.205-207

المؤلفون: Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Curry, Cynthia J, Day, Ruth, Donnai, Dian, Field, Michael, Fujiwara, Ikuma, Gabbett, Michael, Gal, Moran, Graham, John M, Hedera, Peter, Hennekam, Raoul CM, Hersh, Joseph H, Hopkin, Robert J, Kayserili, Hülya, Kidd, Alexa MJ, Kimonis, Virginia, Lin, Angela E, Lynch, Sally Ann, Maisenbacher, Melissa, Mansour, Sahar, McGaughran, Julie, Mehta, Lakshmi, Murphy, Helen, Raygada, Margarita, Robin, Nathaniel H, Rope, Alan F, Rosenbaum, Kenneth N, Schaefer, G Bradley, Shealy, Amy, Smith, Wendy, Soller, Maria, Sommer, Annmarie, Stalker, Heather J, Steiner, Bernhard, Stephan, Mark J, Tilstra, David, Tomkins, Susan, Trapane, Pamela, Tsai, Anne Chun‐Hui, Van Allen, Margot I, Vasudevan, Pradeep C, Zabel, Bernhard, Zunich, Janice, Black, Graeme CM, Biesecker, Leslie G

المصدر: Human Mutation. 31(10)

مصطلحات موضوعية: Genetics, Dental/Oral and Craniofacial Disease, Pediatric, Clinical Research, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Craniofacial Abnormalities, Genotype, Humans, Kruppel-Like Transcription Factors, Mouth Abnormalities, Mutation, Nerve Tissue Proteins, Pallister-Hall Syndrome, Phenotype, Polydactyly, Syndactyly, Zinc Finger Protein Gli3, GLI3, Greig syndrome, Pallister-Hall syndrome, oral-facial-digital syndrome, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6z17j09nTest

المؤلفون: Selvan, Nithya, George, Stephan, Serajee, Fatema J., Shaw, Marie, Hobson, Lynne, Kalscheuer, Vera, Prasad, Nripesh, Levy, Shawn E., Taylor, Juliet, Aftimos, Salim, Schwartz, Charles E., Huq, Ahm M., Gecz, Jozef, Wells, Lance

المساهمون: W. M. Keck Foundation, HHS | NIH | National Institute of General Medical Sciences (NIGMS), South Carolina Department of Disabilities and Special Needs, HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS), Department of Health | National Health and Medical Research Council (NHMRC)

المصدر: Journal of Biological Chemistry ; volume 293, issue 27, page 10810-10824 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1074/jbc.ra118.002583Test
https://api.elsevier.com/content/article/PII:S002192582033831X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S002192582033831X?httpAccept=text/plainTest

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)

الإتاحة: https://doi.org/10.1016/S1474-4422Test(13)70265-5
http://eprints.gla.ac.uk/122442Test/
http://eprints.gla.ac.uk/122442/1/122442.pdfTest

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

العلاقة: https://research.rug.nl/en/publications/3b9a6aef-86b8-4251-8cd3-d24aeb659813Test

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

المؤلفون: Mazzaschi, Roberto L., Ashton, Fern, Aftimos, Salim, George, Alice M., Love, Donald R.

المصدر: Sultan Qaboos University Medical Journal [SQUMJ]; Vol 13, No 2 (2013): May; 306-310 ; 2075-0528 ; 2075-051X

مصطلحات موضوعية: PCLO protein, human, Haploinsufficiency, Chromosome7, trisomy 7q, Case report, New Zealand

وصف الملف: application/pdf

العلاقة: https://journals.squ.edu.om/index.php/squmj/article/view/1786/1736Test; https://journals.squ.edu.om/index.php/squmj/article/view/1786Test

الإتاحة: https://journals.squ.edu.om/index.php/squmj/article/view/1786Test

المؤلفون: Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, Byers, Peter H.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/22/1/1Test; http://dx.doi.org/10.1093/hmg/dds371Test

الإتاحة: https://doi.org/10.1093/hmg/dds371Test
http://hmg.oxfordjournals.org/cgi/content/short/22/1/1Test

المؤلفون: de Munnik, Sonja A., Otten, Barto J., Schoots, Jeroen, Bicknell, Louise S., Aftimos, Salim, Al-Aama, Jumana Y., van Bever, Yolande, Bober, Michael B., Borm, George F., Clayton-Smith, Jill, Deal, Cheri L., Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, van Hagen, Johanna M., Hennekam, Raoul C., Jansweijer, Maaike C. E., Johnson, Diana, Kant, Sarina G., Opitz, John M., Ramadevi, A. Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T. R. M., Sluiter, A. Erik, Temple, I. Karen, Terhal, Paulien A., Toutain, Annick, Wise, Carol A., Wright, Michael, Skidmore, David L., Samuels, Mark E., Hoefsloot, Lies H., Knoers, Nine V. A. M., Brunner, Han G., Jackson, Andrew P., Bongers, Ernie M. H. F.

المصدر: de Munnik , S A , Otten , B J , Schoots , J , Bicknell , L S , Aftimos , S , Al-Aama , J Y , van Bever , Y , Bober , M B , Borm , G F , Clayton-Smith , J , Deal , C L , Edrees , A Y , Feingold , M , Fryer , A , van Hagen , J M , Hennekam , R C , Jansweijer , M C E , Johnson , D , Kant , S G , Opitz , J M , Ramadevi , ....

مصطلحات موضوعية: Meier-Gorlin syndrome, ear-patella-short stature, growth, growth hormone therapy, abnormal secondary sexual development, genital underdevelopment

الإتاحة: https://doi.org/10.1002/ajmg.a.35681Test
https://cris.maastrichtuniversity.nl/en/publications/7e1601a9-b7ae-446f-8d50-faaff5b905c7Test

المؤلفون: Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, Byers, Peter H.

مصطلحات موضوعية: Article

وصف الملف: text/html

العلاقة: http://hmg.oxfordjournals.org/cgi/content/short/dds371v1Test; http://dx.doi.org/10.1093/hmg/dds371Test

الإتاحة: https://doi.org/10.1093/hmg/dds371Test
http://hmg.oxfordjournals.org/cgi/content/short/dds371v1Test

المؤلفون: de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F

المصدر: European Journal of Human Genetics ; volume 20, issue 6, page 598-606 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2011.269Test
http://www.nature.com/articles/ejhg2011269.pdfTest
http://www.nature.com/articles/ejhg2011269Test