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1Academic Journal
المؤلفون: Williams, Meredith A., Biguetti, Claudia, Romero-Bustillos, Miguel, Maheshwari, Kanwal, Dinckan, Nuriye, Cavalla, Franco, Liu, Xiaoming, Silva, Renato, Akyalcin, Sercan, Uyguner, Z. Oya, Vieira, Alexandre R., Amendt, Brad A., Fakhouri, Walid D., Letra, Ariadne
المصدر: SCIENTIFIC REPORTS 8
Relation: https://aperta.ulakbim.gov.tr/record/32495; oai:zenodo.org:32495
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2Academic JournalA biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
المؤلفون: Dinckan, Nuriye, Du, Renqian, Akdemir, Zeynep C., Bayram, Yavuz, Jhangiani, Shalini N., Doddapaneni, Harsha, Hu, Jianhong, Muzny, Donna M., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Boerwinkle, Eric, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Uyguner, Zehra O., Letra, Ariadne
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A 176(4) 1015-1022
Relation: https://aperta.ulakbim.gov.tr/record/32489; oai:zenodo.org:32489
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3Academic Journal
المؤلفون: Du, Renqian, Dinckan, Nuriye, Song, Xiaofei, Coban-Akdemir, Zeynep, Jhangiani, Shalini N., Guven, Yeliz, Aktoren, Oya, Kayserili, Hulya, Petty, Lauren E., Muzny, Donna M., Below, Jennifer E., Boerwinkle, Eric, Wu, Nan, Gibbs, Richard A., Posey, Jennifer E., Lupski, James R., Letra, Ariadne, Uyguner, Z. Oya
المصدر: HUMAN GENETICS 137(9) 689-703
Relation: https://aperta.ulakbim.gov.tr/record/110542; oai:zenodo.org:110542
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4Academic Journal
المؤلفون: Bir, Firdevs Dincsoy, Dinckan, Nuriye, Guven, Yeliz, Bas, Firdevs, Altunoglu, Umut, Kuvvetli, Senem S., Poyrazoglu, Sukran, Toksoy, Guven, Kayserili, Hulya, Uyguner, Z. Oya
المصدر: EUROPEAN JOURNAL OF MEDICAL GENETICS 60(3) 163-168
Relation: https://aperta.ulakbim.gov.tr/record/111356; oai:zenodo.org:111356
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5Report
المؤلفون: BAŞ, FİRDEVS, ALTUNOĞLU, UMUT, SELVİ KUVVETLİ, SENEM, UYGUNER, ZEHRA OYA, KAYSERİLİ KARABEY, HÜLYA, DİNÇSOY BİR, FİRDEVS, GÜVEN, YELİZ, DİNÇKAN, NURİYE
المساهمون: Çanakkale Onsekiz Mart Üniversitesi ,, 3406233
Relation: DİNÇSOY BİR F., GÜVEN Y., DİNÇKAN N., ALTUNOĞLU U., SELVİ KUVVETLİ S., BAŞ F., UYGUNER Z. O. , KAYSERİLİ KARABEY H., "Drawbacks of genotype-phenotype correlation in Cleidocranial Dysplasia in eleven families.", European Human Genetics Conference 2013, Paris, Fransa, 8 - 11 Haziran 2013; vv_1032021; av_7c5434e0-4fa8-4a7c-9898-1973b17d37e8; http://hdl.handle.net/20.500.12627/183425
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6Report
المؤلفون: LETRA, ARIADNE, BELOW, JENNIFER E, UYGUNER, ZEHRA OYA, LUPSKI, JAMES R, POSEY, JENNIFER E, GÜVEN, YELİZ, DU, RENQIAN, DİNÇKAN, NURİYE, SONG, XIAOFEI, PETTY, LAUREN E, ÇOBAN AKDEMİR, ZEYNEP, PAINE, INGRID, BAYRAM, YAVUZ, JHANGIANI, SHALINI, BAUGH, EVAN H, PINAR ERDEM, ARZU, KAYSERİLİ KARABEY, HÜLYA, DODDAPANENI, HARSHA, HU, JIANHONG, MUZNY, DONNA M, AKTÖREN, OYA, WU, NAN, BOERWINKLE, ERIC, GIBBS, RICHARD A
المساهمون: İstanbul Üniversitesi , Diş Hekimliği Fakültesi , Klinik Bilimler Bölümü, 3405993
Relation: DU R., DİNÇKAN N., SONG X., PETTY L. E. , ÇOBAN AKDEMİR Z., PAINE I., BAYRAM Y., JHANGIANI S., BAUGH E. H. , PINAR ERDEM A., et al., "Whole exome sequencing identifies known and likely pathogenic variants in a Turkish tooth agenesis cohort.", American Society of Human Genetics 68th Annual Meeting, SAN DIEGO, Amerika Birleşik Devletleri, 16 - 20 Ekim 2018; vv_1032021; av_8fe3a34a-3d6b-451d-a8a7-d889eebae13a; http://hdl.handle.net/20.500.12627/183728
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7Academic Journal
المؤلفون: Amendt, Brad A., Uyguner, Z. Oya, Vieira, Alexandre R., Fakhouri, Walid D., Letra, Ariadne, Williams, Meredith A., Biguetti, Claudia, Romero-Bustillos, Miguel, Maheshwari, Kanwal, Dinckan, Nuriye, Cavalla, Franco, Liu, Xiaoming, Silva, Renato, Akyalcin, Sercan
المساهمون: University of Texas System ,, 251465
مصطلحات موضوعية: ÇOK DİSİPLİNLİ BİLİMLER, Temel Bilimler, Temel Bilimler (SCI), Doğa Bilimleri Genel
Relation: SCIENTIFIC REPORTS; Williams M. A. , Biguetti C., Romero-Bustillos M., Maheshwari K., Dinckan N., Cavalla F., Liu X., Silva R., Akyalcin S., Uyguner Z. O. , et al., "Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development", SCIENTIFIC REPORTS, cilt.8, 2018; vv_1032021; av_57212322-1f20-413d-b14a-17806ead72a3; http://hdl.handle.net/20.500.12627/61478; https://doi.org/10.1038/s41598-018-21368-z
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8Academic Journal
المصدر: ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY 114(5) E42-E46
Relation: https://aperta.ulakbim.gov.tr/record/87223; oai:zenodo.org:87223
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9Academic JournalA biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis
المؤلفون: JHANGIANI, Shalini N., DODDAPANENI, Harsha, Kayserili, Hulya, BOERWINKLE, Eric, GIBBS, Richard A., POSEY, Jennifer E., LUPSKI, James R., Letra, Ariadne, Uyguner, Zehra O., Dinckan, Nuriye, Aktoren, Oya, Guven, Yeliz, DU, Renqian, AKDEMIR, Zeynep C., BAYRAM, Yavuz, HU, Jianhong, MUZNY, Donna M.
المساهمون: Baylor College of Medicine ,, 31214
مصطلحات موضوعية: Moleküler Biyoloji ve Genetik, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Temel Bilimler
Relation: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; Dinckan N., DU R., AKDEMIR Z. C. , BAYRAM Y., JHANGIANI S. N. , DODDAPANENI H., HU J., MUZNY D. M. , Guven Y., Aktoren O., et al., "A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.176, sa.4, ss.1015-1022, 2018; av_3aaeae64-7a25-42c2-b5ae-9827ba97a8d1; vv_1032021; http://hdl.handle.net/20.500.12627/43433; https://doi.org/10.1002/ajmg.a.38625; 176; 1015; 1022
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10Academic Journal
المؤلفون: PETTY, Lauren E., BELOW, Jennifer E., MUZNY, Donna M., Kayserili, Hulya, Guven, Yeliz, Aktoren, Oya, Dinckan, Nuriye, DU, Renqian, SONG, Xiaofei, COBAN-AKDEMIR, Zeynep, JHANGIANI, Shalini N., Uyguner, Z. Oya, Letra, Ariadne, LUPSKI, James R., POSEY, Jennifer E., GIBBS, Richard A., WU, Nan, BOERWINKLE, Eric
المساهمون: İstanbul Üniversitesi ,, 81938
مصطلحات موضوعية: Tıp, Temel Bilimler, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri, Tıbbi Genetik, Dahili Tıp Bilimleri, Sağlık Bilimleri, GENETİK VE HAYAT, Yaşam Bilimleri (LIFE)
Relation: HUMAN GENETICS; DU R., Dinckan N., SONG X., COBAN-AKDEMIR Z., JHANGIANI S. N. , Guven Y., Aktoren O., Kayserili H., PETTY L. E. , MUZNY D. M. , et al., "Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis", HUMAN GENETICS, cilt.137, ss.689-703, 2018; vv_1032021; av_bdf27e4b-a735-4769-993f-3bda88c346d3; http://hdl.handle.net/20.500.12627/126181; https://doi.org/10.1007/s00439-018-1907-y; 137; 689; 703
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11Academic Journal
المؤلفون: Dinçsoy Bir, Firdevs, Dinçkan, Nuriye, Güven, Yeliz, Baş, Firdevs, Altunoğlu, Umut, Kuvvetli, Senem S., Poyrazoğlu, Şükran, Toksoy, Güven, Kayserili, Hülya, Uyguner, Z. Oya
المساهمون: Scientific and Technological Research Institution of Turkey, TUBİTAK-ERA NET
المصدر: European Journal of Medical Genetics ; volume 60, issue 3, page 163-168 ; ISSN 1769-7212
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12Academic Journal
المساهمون: Bezmiâlem Vakıf Üniversitesi ,, 206397
مصطلحات موضوعية: Dahili Tıp Bilimleri, Aile Hekimliği, Sağlık Bilimleri, Biyoistatistik ve Tıp Bilişimi, Temel Tıp Bilimleri, Tıp, TIBBİ BİLİŞİM, Klinik Tıp (MED), Klinik Tıp, SAĞLIK BAKIM BİLİMLERİ VE HİZMETLERİ
Relation: JOURNAL OF MEDICAL SYSTEMS; Saraydemir S., TAŞPINAR N., Erogul O., Kayserili H., Dinckan N., "Down Syndrome Diagnosis Based on Gabor Wavelet Transform", JOURNAL OF MEDICAL SYSTEMS, cilt.36, sa.5, ss.3205-3213, 2012; av_5c540438-5343-4e3f-be4c-4a711795938e; vv_1032021; http://hdl.handle.net/20.500.12627/64753; https://doi.org/10.1007/s10916-011-9811-1; 36; 3205; 3213
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13Academic Journal
المساهمون: İstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri, 345410
مصطلحات موضوعية: Temel Bilimler, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri, Yaşam Bilimleri (LIFE)
Relation: ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY; Dinçkan N., GÜVEN Y., KAYSERİLİ H., AKTÖREN O., UYGUNER Z. O. , "A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.", ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, cilt.11, sa.4, ss.42-46, 2012; vv_1032021; av_27ce9fdd-cc0a-4dca-ac20-dd430591177f; http://hdl.handle.net/20.500.12627/31615; 11; 42; 46
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14Academic Journal
المساهمون: İstanbul Üniversitesi ,, 20177
مصطلحات موضوعية: Klinik Tıp, Diş Hekimliği, Sağlık Bilimleri, Tıp, Klinik Tıp (MED), DİŞ HEKİMLİĞİ, ORAL CERRAHİ VE TIP
Relation: ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY; Dinckan N., Guven Y., Kayserili H., Aktoren O., Uyguner O. Z. , "A novel c.1255G > T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family", ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY, cilt.114, 2012; av_e84a3dbb-05b1-495f-8524-bd9a9603c0a8; vv_1032021; http://hdl.handle.net/20.500.12627/152699; https://doi.org/10.1016/j.oooo.2012.01.031; 114
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15Academic Journal
المصدر: Journal of Medical Systems; Oct2012, Vol. 36 Issue 5, p3205-3213, 9p, 2 Color Photographs, 2 Black and White Photographs, 4 Charts
مصطلحات موضوعية: DIAGNOSIS of Down syndrome, ALGORITHMS, DATABASES, DISCRIMINANT analysis, FACE, FACTOR analysis, HEALTH, RESEARCH evaluation, SIGNAL processing, COMPUTER-aided diagnosis