نتائج البحث - "Duzkale, H"

1

دورية أكاديمية

Inherited chst11/mir3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

المؤلفون: Chopra, S.S., Leshchiner, I., Duzkale, H., McLaughlin, H., Giovanni, M., Zhang, C., Cassa, C.A.

المساهمون: Chopra, S.S., Leshchiner, I., Duzkale, H., McLaughlin, H., Giovanni, M., Zhang, C., Cassa, C.A., Yeditepe Üniversitesi

مصطلحات موضوعية: CHST11, Inherited lymphoproliferative disorder, Malignant lymphoproliferative disorder, MIR3922, Skeletal malformation

العلاقة: Molecular Genetics and Genomic Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; 413; 423; https://hdl.handle.net/20.500.11831/1568Test

الإتاحة: https://doi.org/20.500.11831/1568Test
https://hdl.handle.net/20.500.11831/1568Test

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النص الكامل

2

دورية أكاديمية

Inherited CHST11/ MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

المؤلفون: Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA

المساهمون: Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA, Yeditepe Üniversitesi

مصطلحات موضوعية: CHST11, inherited lymphoproliferative disorder, malignant lymphoproliferative disorder, MIR3922, skeletal malformation

العلاقة: MOLECULAR GENETICS & GENOMIC MEDICINE; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; WOS: 000214715600006; PubMed ID: 26436107; 413; 423; https://hdl.handle.net/20.500.11831/1571Test

الإتاحة: https://doi.org/20.500.11831/1571Test
https://hdl.handle.net/20.500.11831/1571Test

View record in BASE

النص الكامل

3

دورية أكاديمية

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

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النص الكامل

4

كتاب

Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: Four additional cases support a role of genetic modifiers in the manifestation of the phenotype

المؤلفون: Jamuar, S.S., Duzkale, H., Duzkale, N., Zhang, C., High, F.A., Kaban, L., Lin, A.E.

المساهمون: Jamuar, S.S., Duzkale, H., Duzkale, N., Zhang, C., High, F.A., Kaban, L., Lin, A.E., Yeditepe Üniversitesi

العلاقة: American Journal of Medical Genetics, Part A; Diğer; PubMed ID: 25846266; 1400; 1405; 167; https://hdl.handle.net/20.500.11831/3276Test

الإتاحة: https://doi.org/20.500.11831/3276Test
https://hdl.handle.net/20.500.11831/3276Test

View record in BASE

5

دورية أكاديمية

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

المؤلفون: DiStefano, M.T., Hemphill, S.E., Oza, A.M., Siegert, R.K., Grant, A.R., Hughes, M.Y., Cushman, B.J., Azaiez, H., Booth, K.T., Chapin, A., Duzkale, H., Matsunaga, T., Shen, J., Zhang, W., Kenna, M., Schimmenti, L.A., Tekin, M., Rehm, H.L., Kremer, J.M.J., Tayoun, A.N.A., Amr, S.S.

المصدر: Genetics in Medicine, 21, 10, pp. 2239-2247

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: https://hdl.handle.net/2066/216140Test

الإتاحة: https://doi.org/10.1038/s41436-019-0487-0Test
https://hdl.handle.net/2066/216140Test

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Inherited chst11/mir3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

المؤلفون: Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA

المساهمون: Chopra, S.S., Leshchiner, I., Duzkale, H., McLaughlin, H., Giovanni, M., Zhang, C., Cassa, C.A., Yeditepe Üniversitesi, Chopra, SS, Leshchiner, I, Duzkale, H, McLaughlin, H, Giovanni, M, Zhang, CS, Cassa, CA

مصطلحات موضوعية: Malignant lymphoproliferative disorder, CHST11, MIR3922, Skeletal malformation, Inherited lymphoproliferative disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::747f31523dd923944d98cf63678f7456Test
https://hdl.handle.net/20.500.11831/1568Test