نتائج البحث - "Aykut, Ayça"

1

دورية أكاديمية

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

المؤلفون: Hsieh, Tzung-Chien, Lesmann, Hellen, Hustinx, Alexander, Moosa, Shahida, Marchi, Elaine, Martin, Maria Del Pilar Caro, Abdelrazek, Ibrahim, Pantel, Jean Tori, Klinkhammer, Hannah, Hagen, Merle Ten, Thong, Meow-Keong, Mazlan, Rifhan Azwani Binti, Tae, Sok Kun, Kamphans, Tom, Meiswinkel, Wolfgang, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Tkemaladze, Tinatin, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Jacob, Maureen, Peron, Angela, Dias, Cristina, Nunes, Beatriz, Vilella, Thainá, Pinheiro, Isabel, Kim, Chong, Melaragno, Maria, Weiland, Hannah, Kaptain, Sophia, Chwiałkowska, Karolina, Kwasniewski, Miroslaw, Saad, Ramy, Wiethoff, Sarah, Goel, Himanshu, Tang, Clara, Hau, Anna, Barakat, Tahsin Stefan, Panek, Przemysław, Nabil, Amira, Suh, Julia, Braun, Frederik, Gomy, Israel, Averdunk, Luisa, Ekure, Ekanem, Bergant, Gaber, Peterlin, Borut, Graziano, Claudio, Gaboon, Nagwa, Fiesco-Roa, Moisés, Spinelli, Alessandro, Wilpert, Nina-Maria, Phowthongkum, Prasit, Güzel, Nergis, Haack, Tobias, Bitar, Rana, Tzschach, Andreas, Rodriguez-Palmero, Agusti, Brunet, Theresa, Rudnik-Schöneborn, Sabine, Contreras-Capetillo, Silvina, Oberlack, Ava, Samango-Sprouse, Carole, Sadeghin, Teresa, Olaya, Margaret, Platzer, Konrad, Borovikov, Artem, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Elkhateeb, Nour, Kumar, Sheetal, Komlosi, Katalin, Mohamed, Khoushoua, Kalantari, Silvia, Sirchia, Fabio, Martinez-Monseny, Antonio, Höller, Matthias, Mohamed, Amal, Lasa-Aranzasti, Amaia, Sayer, John, Ehmke, Nadja, Danyel, Magdalena, Sczakiel, Henrike, Schwartzmann, Sarina, Boschann, Felix, Zhao, Max, Adams, Ronja, Einicke, Lara, Chew, Kee Seang, Kam, Choy Chen, Karakoyun, Miray, Pode-Shakked, Ben, Eliyahu, Aviva, Rock, Rachel, Carrion, Teresa, Chorin, Odelia, Zarate, Yuri, Martinez, Marcello, Karakaya, Mert, Tung, Moon Ley, Chandra, Bharatendu, Lumaka, Aimé, Shinawi, Marwan, Blackburn, Patrick, Wang, Tianyun, Niehues, Tim, Hu, Ping, Waikel, Rebekah, Hanchard, Suzanna Ledgister, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bezieau, Stephane, Arlt, Annabelle, Marbach, Felix, Li, Dong, Dupuis, Lucie, Mendoza-Londono, Roberto, Houge, Sofia Douzgou, Weis, Denisa, Mak, Christopher, Elcioglu, Nursel, Aykut, Ayca, Şimşek-Kiper, Peli, Bögershausen, Nina, Wollnik, Bernd, Bentzen, Heidi Beate, Kurth, Ingo, Netzer, Christian, Jezela-Stanek, Aleksandra, Devriendt, Koen, Gripp, Karen, Mücke, Martin, Verloes, Alain, Schaaf, Christian, Nellåker, Christoffer, Solomon, Benjamin, Nöthen, Markus, Abdalla, Ebtesam, Lyon, Gholson, Krawitz, Peter, Kayserili, Hulya, Toutouna, Louiza, Schmidt, Axel, Roth, Regina, Wieczorek, Dagmar, Olinger, Eric

المصدر: Hsieh , T-C , Lesmann , H , Hustinx , A , Moosa , S , Marchi , E , Martin , M D P C , Abdelrazek , I , Pantel , J T , Klinkhammer , H , Hagen , M T , Thong , M-K , Mazlan , R A B , Tae , S K , Kamphans , T , Meiswinkel , W , Javanmardi , B , Knaus , A , Uwineza , A , Knopp , C , Tkemaladze , T , Elbracht , M , Mattern , L , Jamra , R ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest

الإتاحة: https://doi.org/10.21203/rs.3.rs-4438861/v1Test
https://pure.eur.nl/en/publications/4292a019-4578-4cc0-aeab-58f7f92e1eabTest
https://pure.eur.nl/ws/files/154580872/GestaltMatcher_Database_-_A_global_reference_for_facial_phenotypic_variability_in_rare_human_diseases.pdfTest

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2

دورية أكاديمية

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals

المؤلفون: Yildirim, Ruken, Unal, Edip, Ozalkak, Servan, Akalin, Akcahan, Aykut, Ayca, Yilmaz, Nevzat

مصطلحات موضوعية: Ptpn11, Noonan Syndrome, Short Stature

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.4274/jcrpe.galenos.2023.2023-5-16Test; https://hdl.handle.net/11468/19664Test; 16; 76; 83; WOS:001192163700012; 2-s2.0-85187543511; Q2; N/A

الإتاحة: https://doi.org/10.4274/jcrpe.galenos.2023.2023-5-16Test
https://hdl.handle.net/11468/19664Test

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النص الكامل

3

دورية أكاديمية

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

المؤلفون: Guven, Burcu, Aytaç, Gülçin, Aydin, İlyas, Topyıldız, Ezgi, Aykut, Ayça, Durmaz, Asude, Karaca, Neslihan Edeer

مصطلحات موضوعية: Mutations, Gene

العلاقة: Case Reports in Immunology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1155/2023/2363760Test; https://hdl.handle.net/11454/90847Test; Karaca, Neslihan/0000-0002-2202-7082; Aksu, Guzide/0000-0003-2714-0903; AYKUT, Ayça/0000-0002-1460-0053; Taskin, Raziye Burcu/0000-0003-1734-8102; 2023

الإتاحة: https://doi.org/10.1155/2023/2363760Test
https://hdl.handle.net/11454/90847Test

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النص الكامل

4

دورية أكاديمية

An Extraordinary Case of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Syndrome Misdiagnosed as Juvenile Idiopathic Arthritis on Admission

المؤلفون: Aytaç, Gülçin, Guven, Burcu, Aydin, İlyas, Topyıldız, Ezgi, Aykut, Ayça, Durmaz, Asude, Karaca, Neslihan Edeer

مصطلحات موضوعية: Mutations, Gene

العلاقة: Case Reports in Immunology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1155/2023/2363760Test; https://hdl.handle.net/11454/87096Test; 2023; WOS:000982643800001; 2-s2.0-85159115612

الإتاحة: https://doi.org/10.1155/2023/2363760Test
https://hdl.handle.net/11454/87096Test

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النص الكامل

5

دورية أكاديمية

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

المصدر: Genetics in Medicine ; volume 25, issue 5, page 100799 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.100799Test
https://api.elsevier.com/content/article/PII:S1098360023008122?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023008122?httpAccept=text/plainTest

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6

دورية أكاديمية

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

المؤلفون: Boschann, Felix, Cogulu, Muhsin Ö., Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Schmidt, Julia

المساهمون: Boschann, Felix, Cogulu, Muhsin Ö., Pehlivan, Davut, Balachandran, Saranya, Vallecillo-Garcia, Pedro, Grochowski, Christopher M., Hansmeier, Nils R., Coban Akdemir, Zeynep H., Prada-Medina, Cesar A., Aykut, Ayca, Schmidt, Julia

العلاقة: https://resolver.sub.uni-goettingen.de/purl?gro-2/117927Test; S1098360022008498

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.012Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/117927Test

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7

دورية أكاديمية

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals.

المؤلفون: Yıldırım, Ruken, Ünal, Edip, Özalkak, Şervan, Akalın, Akçahan, Aykut, Ayça, Yılmaz, Nevzat

المصدر: Journal of Clinical Research in Pediatric Endocrinology; Mar2024, Vol. 16 Issue 1, p76-83, 8p

مصطلحات موضوعية: NOONAN syndrome, CONSANGUINITY, DESCRIPTIVE statistics, GENES, GENETIC mutation, MOLECULAR biology, DATA analysis software

النص الكامل

8

دورية أكاديمية

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

المؤلفون: Edeer Karaca, Neslihan, Topyildiz, Ezgi, Aygun, Ayse, Aykut, Ayca, Aksu, Guzide, Kutukculer, Necil, Durmaz, Asude

مصطلحات موضوعية: Patient, Adapter Protein

العلاقة: Case Reports In Immunology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/77672Test; https://doi.org/10.1155/2022/7313009Test; 2022

الإتاحة: https://doi.org/10.1155/2022/7313009Test
https://hdl.handle.net/11454/77672Test

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النص الكامل

9

دورية أكاديمية

Astım ve alerjik rinit komorbiditesi olan çocuklarda nazofaringeal mikrobiyotanın araştırılması

المؤلفون: Çavuşoğlu, Cengiz, Inci, Tarık, Polat, Furkan, Uysal, Ayça Aydın, Yaşar, Adem, Yüksel, Hasan, Aykut, Ayça

العلاقة: Ege Tıp Dergisi; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/90681Test; https://search.trdizin.gov.tr/yayin/detay/1121263Test; 61; 371; 378

الإتاحة: https://hdl.handle.net/11454/90681Test
https://search.trdizin.gov.tr/yayin/detay/1121263Test

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10

دورية أكاديمية

A Novel BLNK Gene Mutation in a Four-Year-Old Child Who Presented with Late Onset of Severe Infections and High IgM Levels and Diagnosed and Followed as X-Linked Agammaglobulinemia for Two Years

المؤلفون: Topyildiz, Ezgi, Edeer Karaca, Neslihan, Aygun, Ayse, Aykut, Ayca, Durmaz, Asude, Aksu, Guzide, Kutukculer, Necil

مصطلحات موضوعية: Adapter Protein, Patient

العلاقة: Case Reports In Immunology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1155/2022/7313009Test; https://hdl.handle.net/11454/85414Test; 2022; WOS:000813628500001; 2-s2.0-85147402305

الإتاحة: https://doi.org/10.1155/2022/7313009Test
https://hdl.handle.net/11454/85414Test

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النص الكامل

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