المؤلفون: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G, Stettner, Georg M, Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie

المساهمون: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M, Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G, Stettner, Georg M, Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie

مصطلحات موضوعية: SNURPORTIN, ribonucleoprotein

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38413582; info:eu-repo/semantics/altIdentifier/wos/WOS:001178774300021; volume:15; issue:1; firstpage:1; lastpage:19; numberofpages:19; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11585/968046; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85186742934; https://www.nature.com/articles/s41467-024-45933-5

الاتاحة: https://hdl.handle.net/11585/968046
https://doi.org/10.1038/s41467-024-45933-5
https://www.nature.com/articles/s41467-024-45933-5

المؤلفون: Senturk, Leyli, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kayserili, Hulya, Kalelioglu, Ibrahim Halil, Avci, Sahin, Has, Recep, Coucke, Paul, Kalayci, Tugba, Wollnik, Bernd, Uyguner, Zehra Oya

المساهمون: Senturk, Leyli, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kayserili, Hulya, Kalelioglu, Ibrahim Halil, Avci, Sahin, Has, Recep, Coucke, Paul, Kalayci, Tugba, Wollnik, Bernd, Uyguner, Zehra Oya

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/144062

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/144062
https://doi.org/10.1159/000536324

المؤلفون: Turgut, Gozde Tutku, Altunoglu, Umut, Gulec, Cagri, Sarac Sivrikoz, Tugba, Kalaycı, Tuğba, Toksoy, Guven, Avcı, Şahin, Yıldırım, Behiye Tuğçe, Sayın, Gözde Yeşil, Kalelioglu, Ibrahim Halil, Karaman, Birsen, Has, Recep, Başaran, Seher, Yuksel, Atil, Kayserili, Hülya, Uyguner, Zehra Oya

المصدر: Clinical Genetics ; volume 105, issue 6, page 596-610 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.14490
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14490

المؤلفون: Yunisova, Gulshan, Eraslan, Serpil, Avci, Sahin, Eren, İlker, Demirhan, Mehmet, Kayserili, Hulya, Oflazer, Piraye

المصدر: Neurology ; volume 102, issue 17_supplement_1 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000206152

المؤلفون: Cepni, Ece, Borklu, Esra, Avci, Sahin, Kalayci, Tugba, Eraslan, Serpil, Kayserili, Hulya

المصدر: CLINICAL GENETICS 104(2) 8

Relation: https://aperta.ulakbim.gov.tr/record/272130; oai:aperta.ulakbim.gov.tr:272130

الاتاحة: https://aperta.ulakbim.gov.tr/record/272130

المؤلفون: Kalayci, Tugba, Altunoglu, Umut, Esmer, Aytul Corbacioglu, Avci, Sahin, Sivrikoz, Tugba Sarac, Karaman, Birsen, Kalelioglu, Ibrahim, Has, Recep, Uyguner, Zehra Oya, Yuksel, Atil, Basaran, Seher, Kayserili, Hulya

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A 191(2) 498-509

Relation: https://aperta.ulakbim.gov.tr/record/258007; oai:aperta.ulakbim.gov.tr:258007

الاتاحة: https://aperta.ulakbim.gov.tr/record/258007

المؤلفون: Üçem, Selen, Avcı, Şahin, Gürses, Candan

المصدر: Epileptic Disorders ; volume 26, issue 3, page 392-394 ; ISSN 1294-9361 1950-6945

الاتاحة: http://dx.doi.org/10.1002/epd2.20204
https://onlinelibrary.wiley.com/doi/pdf/10.1002/epd2.20204

المؤلفون: Akdogan, Özlem, Avci, Sahin, Bauer, Peter, Gürses, Candan

المصدر: Neurological Sciences and Neurophysiology ; volume 41, issue 2, page 118-120 ; ISSN 2636-865X

الاتاحة: https://doi.org/10.4103/nsn.nsn_93_23
https://journals.lww.com/10.4103/nsn.nsn_93_23

المؤلفون: Toksoy, Güven, Uludağ Alkaya, Dilek, Bagirova, Gülendam, Avcı, Şahin, Aghayev, Agharza, Günes, Nilay, Altunoğlu, Umut, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra O.

المصدر: Molecular Syndromology ; volume 11, issue 4, page 183-196 ; ISSN 1661-8769 1661-8777

الاتاحة: http://dx.doi.org/10.1159/000509838
https://karger.com/msy/article-pdf/11/4/183/3908754/000509838.pdf

Additional Titles: Roberts sendromlu altı olgunun klinik ve moleküler sonuçları ile Türkiye’den bildirilen olguların gözden geçirilmesi

المؤلفون: Avcı, Şahin; Altunoğlu, Umut (ORCID 0000-0002-3172-5368 & YÖK ID 126174), Aslanger, Ayca Dilruba; Kalayci, Tugba; Konur, Esma Nur; Gulec, Cagri; Karaman, Volkan; Toksoy, Guven; Karaman, Birsen; Basaran, Seher; Uyguner, Zehra; Yesil, Gozde, Koç University Hospital, School of Medicine

المصدر: Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi

مصطلحات الفهرس: Medicine; General and internal medicine, Roberts syndrome; ESCO2; Tetraphocomelia, Review, text/academic publication

URL: http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/11114
http://worldcat.org/oclc/1429869372/viewonline
Publisher version
Koç University Institutional Repository

المؤلفون: Kardelen, Aslı Derya, Najaflı, Adam, Baş, Firdevs, Karaman, Birsen, Toksoy, Güven, Poyrazoğlu, Şükran, Avcı, Şahin, Altunoğlu, Umut, Abalı, Zehra Yavaş, Öztürk, Ayşe Pınar, Özturan, Esin Karakılıç, Başaran, Seher, Darendeliler, Feyza, Uyguner, Z. Oya

المصدر: Journal of Clinical Research in Pediatric Endocrinology; Dec2023, Vol. 15 Issue 4, p338-347, 10p

مصطلحات موضوعية: GENETIC mutation, ANTHROPOMETRY, RETROSPECTIVE studies, GENETIC testing, HUMAN growth hormone, CASE studies, DESCRIPTIVE statistics, RESEARCH funding, PITUITARY hormones, DATA analysis software, GROWTH disorders

المؤلفون: Karaman, Volkan, Toksoy, Guven, Karaman, Birsen, Kayserili Karabey, Hulya, Basaran, Seher, Altunoglu, Umut, Avci, Sahin, Uyguner, Zehra Oya

المصدر: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI 82(2) 116-122

Relation: https://aperta.ulakbim.gov.tr/record/111994; oai:zenodo.org:111994

الاتاحة: https://aperta.ulakbim.gov.tr/record/111994

المؤلفون: Türkyilmaz, Gürcan, Avcı, Sahin, Sıvrıkoz, Tugba, Erturk, Emircan, Altunoglu, Umut, Turkyilmazlmaz, Sebnem Erol, Kalelioglu, Ibrahim Halil, Has, Recep, Yuksel, Atil

المصدر: Fetal and Pediatric Pathology ; volume 38, issue 2, page 127-137 ; ISSN 1551-3815 1551-3823

الاتاحة: http://dx.doi.org/10.1080/15513815.2018.1556367
https://www.tandfonline.com/doi/pdf/10.1080/15513815.2018.1556367

المؤلفون: Yesil, Gozde, Uyguner, Oya, Gokcay, Gülden Fatma, KARAMAN, Volkan, KARACA, Meryem, ASLANGER, Ayça Dilruba, TOKSOY, Güven, GÜLEÇ, Çağrı, KALAYCI, Tuğba, Sengenc, Esma, Avci, Sahin, Altunoglu, Umut, Iscan, Akin

المساهمون: İstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü, 4409956

مصطلحات موضوعية: Genel Tıp, TIP, GENEL & DAHİLİ, Klinik Tıp, Klinik Tıp (MED), Tıp, Sağlık Bilimleri, Temel Tıp Bilimleri, Genel Sağlık Meslekleri, Patofizyoloji, Temel Bilgi ve Beceriler, Değerlendirme ve Teşhis, Dahiliye, Aile Sağlığı, Tıp (çeşitli)

Relation: MEDICAL JOURNAL OF BAKIRKOY; ASLANGER A. D., GÜLEÇ Ç., KALAYCI T., Sengenc E., Avci S., Altunoglu U., KARAMAN V., TOKSOY G., KARACA M., Iscan A., et al., "Clinical and Molecular Findings of Nine Cases with Tay- Sachs Disease From Turkiye", MEDICAL JOURNAL OF BAKIRKOY, cilt.19, sa.2, ss.222-228, 2023; av_1eae8ed7-5093-4e09-b482-85fdf8a5d21a; vv_1032021; http://hdl.handle.net/20.500.12627/190049; https://avesis.istanbul.edu.tr/api/publication/1eae8ed7-5093-4e09-b482-85fdf8a5d21a/file; https://doi.org/10.4274/bmj.galenos.2023.2022.9-10; 19; 222; 228

الاتاحة: https://hdl.handle.net/20.500.12627/190049
https://avesis.istanbul.edu.tr/api/publication/1eae8ed7-5093-4e09-b482-85fdf8a5d21a/file
https://doi.org/10.4274/bmj.galenos.2023.2022.9-10

المؤلفون: Çorbacioglu Esmer, Aytul, Avcı, Şahin, Sarac Sivrikoz, Tugba, Kalelioğlu, İbrahim, Has, Recep, Uyguner, Zehra Oya, Yüksel, Atıl, Kayserili, Hülya, Başaran, Seher, Kalayci, Tuğba, Karaman, Birsen, Altunoglu, Umut

المساهمون: İstanbul Üniversitesi , Sağlık Bilimleri Enstitüsü , Aziz Sancar Deneysel Tıp Araştırma Enstitüsü Bölümü, 4079859

مصطلحات موضوعية: Aile Sağlığı, Klinik Tıp (MED), Yaşam Bilimleri (LIFE), Klinik Tıp, Moleküler Biyoloji ve Genetik, TIP, GENEL & DAHİLİ, GENETİK VE KALITIM, Tıp, Dahili Tıp Bilimleri, Tıbbi Genetik, Sağlık Bilimleri, Genel Sağlık Meslekleri, Patofizyoloji, Temel Bilgi ve Beceriler, Dahiliye, Değerlendirme ve Teşhis, Genetik (klinik), Tıp (çeşitli), Genel Tıp, Genetik, Yaşam Bilimleri

Relation: American journal of medical genetics. Part A; Kalayci T., Altunoglu U., Çorbacioglu Esmer A., Avcı Ş., Sarac Sivrikoz T., Karaman B., Kalelioğlu İ., Has R., Uyguner Z. O., Yüksel A., et al., "Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.", American journal of medical genetics. Part A, cilt.191, sa.2, ss.498-509, 2023; vv_1032021; av_362311c5-f9e0-458c-b3dd-1ccc8e65c6bb; http://hdl.handle.net/20.500.12627/187826; https://doi.org/10.1002/ajmg.a.63050; 191; 498; 509

الاتاحة: https://hdl.handle.net/20.500.12627/187826
https://doi.org/10.1002/ajmg.a.63050

المؤلفون: Aksu Uzunhan, Tuğçe, Ertürk, Biray, Aydın, Kürşad, Ayaz, Akif, Altunoğlu, Umut, Yarar, Murat Hakkı, Gezdirici, Alper, İçağasıoğlu, Dilara Füsun, Gökpınar İli, Ezgi, Uyanık, Bülent, Eser, Metin, Kutbay, Yaşar Bekir, Topçu, Yasemin, Kılıç, Betül, Bektaş, Gonca, Arduç Akçay, Ayfer, Ekici, Barış, Chousein, Amet, Avcı, Şahin, Yüksel, Atıl, Kayserili, Hülya

مصطلحات موضوعية: ARMC9, HYLS1, Joubert Syndrome, KATNIP, Molar Tooth Sign

وصف الملف: application/pdf

Relation: Clinical Neurology and Neurosurgery; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Aksu Uzunhan, T., Ertürk, B., Aydın, K., Ayaz, A., Altunoğlu, U., Yarar, M. H. . Kayserili, H. (2023). Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome. Clinical Neurology and Neurosurgery, 224. https://dx.doi.org/10.1016/j.clineuro.2022.107560; https://dx.doi.org/10.1016/j.clineuro.2022.107560; https://hdl.handle.net/20.500.12511/10254; 224; Q3; 000964534000001; 2-s2.0-85144861812; Q2

الاتاحة: https://hdl.handle.net/20.500.12511/10254
https://doi.org/10.1016/j.clineuro.2022.107560

المؤلفون: Yunisova, Gulshan, Akçay, Ayfer Arduç, Avci, Şahin, Eraslan, Serpil, Kayserili, Hülya, Oflazer, Piraye

المصدر: Neurology ; volume 100, issue 17_supplement_2 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.0000000000203759
https://syndication.highwire.org/content/doi/10.1212/WNL.0000000000203759

المؤلفون: TOKSOY, GÜVEN, BAŞ, FİRDEVS, DARENDELİLER, FATMA FEYZA, KARAMAN, BİRSEN, POYRAZOĞLU, ŞÜKRAN, AGHAYEV, AGHARZA, AVCI, ŞAHİN, YAVAŞ ABALI, ZEHRA, ALTUNOĞLU, UMUT, BAŞARAN, SEHER, UYGUNER, ZEHRA OYA, YILDIZ, MELEK

المساهمون: 4403812

Relation: AGHAYEV A., TOKSOY G., POYRAZOĞLU Ş., KARAMAN B., AVCI Ş., YILDIZ M., YAVAŞ ABALI Z., ALTUNOĞLU U., BAŞ F., DARENDELİLER F. F., et al., "Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience", 57th ESPE 2018 Meeting, Atina, Yunanistan, 27 Eylül 2018; vv_1032021; av_2d010662-db6c-4f13-b615-6e49ad1ce12c; http://hdl.handle.net/20.500.12627/190454

الاتاحة: https://hdl.handle.net/20.500.12627/190454

Alternate Title: Tay-Sachs Hastalığı Olan Türkiye'den Dokuz Olgunun Klinik ve Moleküler Bulguları. (Turkish)

المؤلفون: Aslanger, Ayça Dilruba, Güleç, Çağrı, Kalaycı, Tuğba, Şengenç, Esma, Avcı, Şahin, Altunoğlu, Umut, Karaman, Volkan, Toksoy, Güven, Karaca, Meryem, İşcan, Akın, Gökçay, Gülden, Yeşil, Gözde, Uyguner, Oya

المصدر: Medical Journal of Bakirkoy; Jun2023, Vol. 19 Issue 2, p222-228, 7p

مصطلحات موضوعية: TAY-Sachs disease, NEWBORN screening, GENETIC mutation, SEQUENCE analysis, MOLECULAR pathology, GENETIC testing, CASE studies, GENES, GLYCOSIDASES, EARLY diagnosis, SYMPTOMS

مصطلحات جغرافية: TURKEY

المؤلفون: Karakilic‐Ozturan, Esin, Altunoglu, Umut, Ozturk, Ayse Pinar, Kardelen Al, Asli Derya, Yavas Abali, Zehra, Avci, Sahin, Wollnik, Bernd, Poyrazoglu, Sukran, Bas, Firdevs, Uyguner, Zehra Oya, Darendeliler, Feyza

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/107388

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/107388
https://doi.org/10.1002/ajmg.a.62742