المؤلفون: Ghosh, S, Bal, SK, Edwards, ESJ, Pillay, B, Heredia, RJ, Cipe, FE, Rao, G, Salzer, E, Zoghi, S, Abolhassani, H, Momen, T, Gostick, E, Price, DA, Zhang, Y, Oler, AJ, Gonzaga-Jauregui, C, Erman, B, Metin, A, Ilhan, I, Haskologlu, S, Islamoglu, C, Baskin, K, Ceylaner, S, Yilmaz, E, Unal, E, Karakukcu, M, Berghuis, D, Cole, T, Gupta, AK, Hauck, F, Kogler, H, Hoepelman, AIM, Baris, S, Karakoc-Aydiner, E, Ozen, A, Kager, L, Holzinger, D, Paulussen, M, Kruger, R, Meisel, R, Oommen, PT, Morris, E, Neven, B, Worth, A, van Montfrans, J, Fraaij, PLA, Choo, S, Dogu, F, Davies, EG, Burns, S, Duckers, G, Becker, RP, von Bernuth, H, Latour, S, Faraci, M, Gattorno, M, Su, HC, Pan-Hammarstrom, Q, Hammarstrom, L, Lenardo, MJ, Ma, CS, Niehues, T, Aghamohammadi, A, Rezaei, N, Ikinciogullari, A, Tangye, SG, Lankester, AC, Boztug, K

المصدر: Blood. 136(23):2638-2655

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145426617

المؤلفون: Hakan N, Aydin M, Ceylaner S, Dilli D, Zenciroğlu A, Okumuş N

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 51-58 (2024)

مصطلحات موضوعية: neonatal hyperbilirubinemia, gene polymorphisms, ugt1a1, slco1b1/b3, gst, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2199-5761

URL الوصول: https://doaj.org/article/f0a167a8bd11475581a4bd49a09a51d2

المؤلفون: Aladağ N, Ali Barman H, Şipal A, Akbulut T, Özdemir M, Ceylaner S

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 43-50 (2023)

مصطلحات موضوعية: unexplained left ventricular hypertrophy, fabry disease, gla mutation, polymorphism, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2199-5761

URL الوصول: https://doaj.org/article/7508e1a9d5564ce18f605b479b1ac0c4

المؤلفون: Hakan, N., Aydin, M., Ceylaner, S., Dilli, D., Zenciroglu, A., Okumus, N.

المصدر: BALKAN JOURNAL OF MEDICAL GENETICS 26(2) 8

Relation: https://aperta.ulakbim.gov.tr/record/267438; oai:aperta.ulakbim.gov.tr:267438

الاتاحة: https://aperta.ulakbim.gov.tr/record/267438

المؤلفون: Cabrera-Serrano, M, Caccavelli, L, Savarese, M, Vihola, A, Jokela, M, Johari, M, Capiod, T, Madrange, M, Bugiardini, E, Brady, S, Quinlivan, R, Merve, A, Scalco, R, Hilton-Jones, D, Houlden, H, Ibrahim Aydin, H, Ceylaner, S, Vockley, J, Taylor, RL, Folland, C, Kelly, A, Goullee, H, Ylikallio, E, Auranen, M, Tyynismaa, H, Udd, B, Forrest, ARR, Davis, MR, Bratkovic, D, Manton, N, Robertson, T, McCombe, P, Laing, NG, Phillips, L, de Lonlay, P, Ravenscroft, G

المصدر: Brain , 145 (11) pp. 3985-3998. (2022)

مصطلحات موضوعية: Rhabdomyolysis, hyperCKaemia, myalgia, exercise intolerance, obscurin

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10141366/1/awab484.pdf; https://discovery.ucl.ac.uk/id/eprint/10141366/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10141366/1/awab484.pdf
https://discovery.ucl.ac.uk/id/eprint/10141366/

المؤلفون: Kılıç Yıldırım, G, Yarar, C, Şeker Yılmaz, B, Ceylaner, S

المصدر: Journal of Pediatric Endocrinology and Metabolism , 35 (4) pp. 535-541. (2022)

مصطلحات موضوعية: filipin test, neurodegeneration, Niemann-Pick Type C (NPC), novel mutation, NPC1gene

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10140804/1/10.1515_jpem-2021-0052.pdf; https://discovery.ucl.ac.uk/id/eprint/10140804/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10140804/1/10.1515_jpem-2021-0052.pdf
https://discovery.ucl.ac.uk/id/eprint/10140804/

المؤلفون: Ceylaner, G., Ceylaner, S., Ustunkan, F., Inan, M.

المساهمون: Ceylaner, G., Ceylaner, S., Ustunkan, F., Inan, M., Yeditepe Üniversitesi

مصطلحات موضوعية: Congenital/diagnosis/genetics, Genetic, Hip dislocation, Pedigree, Polymorphism

Relation: Acta Orthopaedica et Traumatologica Turcica; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; PubMed ID: 19060525; 289; 291; 42; https://hdl.handle.net/20.500.11831/5992

الاتاحة: https://hdl.handle.net/20.500.11831/5992

المؤلفون: Tanacan, E., Ceylaner, S., Sumer, G., Eksioglu, M., Ä°mren, Işıl Göğem

مصطلحات موضوعية: protein glutamine gamma glutamyltransferase, emollient agent, pyroxylin, transglutaminase 1, unclassified drug, acanthosis, birth weight, case report, cephalopelvic disproportion, cesarean section, child, clinical article, clinical feature, disease course, epidermis, follow up, gene mutation, genetic association, gestational age, histopathology, homozygosity, human, human tissue, hyperkeratosis, ichthyosis, lamellar ichthyosis, Letter, newborn, preschool child, punch biopsy

Relation: Dermatologic Therapy; DiÄŸer; https://hdl.handle.net/11499/36936; https://doi.org/10.1111/dth.14152; 33; WOS:000566269100001

الاتاحة: https://hdl.handle.net/11499/36936
https://doi.org/10.1111/dth.14152

المؤلفون: Wong, HH, Seet, SH, Maier, M, Gurel, A, Traspas, RM, Lee, C, Zhang, S, Talim, B, Loh, AYT, Chia, CY, Teoh, TS, Sng, D, Rensvold, J, Unal, S, Shishkova, E, Cepni, E, Nathan, FM, Sirota, FL, Liang, C, Yarali, N, Simsek-Kiper, PO, Mitani, T, Ceylaner, S, Arman-Bilir, O, Mbarek, H, Gumruk, F, Efthymiou, S, Cimen, DU, Georgiadou, D, Sotiropoulou, K, Houlden, H, Paul, F, Pehlivan, D, Laine, C, Chai, G, Ali, NA, Choo, SC, Keng, SS, Boisson, B, Yilmaz, E, Xue, S, Coon, JJ, Ly, TTN, Gilani, N, Hasbini, D, Kayserili, H, Zaki, MS, Isfort, RJ, Ordonez, N, Tripolszki, K, Bauer, P, Rezaei, N, Seyedpour, S, Khotaei, GT, Bascom, CC, Maroofian, R, Chaabouni, M, Alsubhi, A, Eyaid, W, Isikay, S, Gleeson, JG, Lupski, JR, Casanova, J-L, Pagliarini, DJ, Akarsu, NA, Maurer-Stroh, S, Cetinkaya, A, Bertoli-Avella, A, Mathuru, AS, Ho, L, Bard, FA, Reversade, B

المصدر: American Journal of Human Genetics , 108 (7) pp. 1301-1317. (2021)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10135462/3/Efthymiou_HH.%20Wong%20et%20al_final.pdf; https://discovery.ucl.ac.uk/id/eprint/10135462/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10135462/3/Efthymiou_HH.%20Wong%20et%20al_final.pdf
https://discovery.ucl.ac.uk/id/eprint/10135462/

المؤلفون: Yılmaz, BŞ, Ceylaner, S, Mungan, NÖ

المصدر: The Turkish Journal of Pediatrics , 63 (2) pp. 314-318. (2021)

مصطلحات موضوعية: Brown-Vialetto-Van Laere syndrome, riboflavin, left ventricle-non compaction, mitochondrial disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10127166/1/pdf_TJP_2290.pdf; https://discovery.ucl.ac.uk/id/eprint/10127166/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10127166/1/pdf_TJP_2290.pdf
https://discovery.ucl.ac.uk/id/eprint/10127166/

المؤلفون: Şeker Yilmaz, B, Kör, D, Bulut, FD, Kilavuz, S, Ceylaner, S, Önenli Mungan, HN

المصدر: Turkish Journal of Medical Sciences (2021) (In press).

مصطلحات موضوعية: Methylmalonic acidemia, complications, novel mutations, outcome

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10119971/1/SAG-2001-72_manuscript_3.pdf; https://discovery.ucl.ac.uk/id/eprint/10119971/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10119971/1/SAG-2001-72_manuscript_3.pdf
https://discovery.ucl.ac.uk/id/eprint/10119971/

المؤلفون: Eser, G., Celik, G., Ceylaner, S., Tuncali, T., Yapici, Z., Topaloglu, H.

المصدر: Neuromuscular Disorders ; volume 31, page S142 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2021.07.327
https://api.elsevier.com/content/article/PII:S0960896621005149?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896621005149?httpAccept=text/plain

المؤلفون: Kör, D, Şeker-Yılmaz, B, Bulut, FD, Kılavuz, S, Öktem, M, Ceylaner, S, Yıldızdaş, D, Önenli-Mungan, N

المصدر: The Turkish Journal of Pediatrics , 61 (3) pp. 330-336. (2019)

مصطلحات موضوعية: Propionic acidemia, novel mutation, clinical features, PCCA, PCCB

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10089377/1/propiyonik%20asidemi.pdf; https://discovery.ucl.ac.uk/id/eprint/10089377/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10089377/1/propiyonik%20asidemi.pdf
https://discovery.ucl.ac.uk/id/eprint/10089377/

المؤلفون: Kardelen Al AD, Poyrazoğlu Ş, Aslanger A, Yeşil G, Ceylaner S, Baş F, Darendeliler F.

Relation: Horm Res Paediatr; https://hdl.handle.net/20.500.12645/37424

الاتاحة: https://hdl.handle.net/20.500.12645/37424
https://doi.org/10.1159/000506740

المؤلفون: Kardelen, A.D., Özturan, E.K., Poyrazoglu, S., Bas, F., Ceylaner, S., Joustra, S.D., Wit, J.M., Darendeliler, F.

المصدر: Journal of Clinical Research in Pediatric Endocrinology

مصطلحات موضوعية: IGSF1, central hypothyroidism, short stature, large for gestational age, growth hormone deficiency, prolactin deficiency

وصف الملف: application/pdf

Relation: https://jag.journalagent.com/jcrpe/pdfs/JCRPE-92063-CASE_REPORT-KARDELEN.pdf; lumc-id: 186355952; https://hdl.handle.net/1887/3762619

الاتاحة: https://hdl.handle.net/1887/3762619
https://jag.journalagent.com/jcrpe/pdfs/JCRPE-92063-CASE_REPORT-KARDELEN.pdf
https://doi.org/10.4274/jcrpe.galenos.2022.2021-12-3

المؤلفون: Polat, R, Üstyol, A, Altunbas, R, Ceylaner, S

المساهمون: Polat, Recep, Ustyol, Ala, Altunbas, Rabia, Ceylaner, Serdar, polat, recep/0000-0002-3786-0739, Ceylaner, Serdar/0000-0003-2786-1911

Relation: ENDOCR METAB IMMUNE; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; http://dx.doi.org/10.2174/1871530323666221111151455; https://hdl.handle.net/20.500.12619/102064; 23; 727; 731

الاتاحة: https://hdl.handle.net/20.500.12619/102064
https://doi.org/10.2174/1871530323666221111151455

المؤلفون: Tekce, H Durmus, Gedikbası, A., Ceylaner, S., Demirci, H., Cakar, A., Mergen, S., Kıyan, E., Parman, Y.

المصدر: Neuromuscular Disorders ; volume 33, page S184 ; ISSN 0960-8966

الاتاحة: http://dx.doi.org/10.1016/j.nmd.2023.07.461
https://api.elsevier.com/content/article/PII:S0960896623006417?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960896623006417?httpAccept=text/plain

المؤلفون: Seker Yilmaz, B, Mungan, NO, Kor, D, Bulut, D, Seydaoglu, G, Öktem, M, Ceylaner, S

المصدر: Journal of Pediatric Endocrinology and Metabolism , 31 (3) pp. 339-343. (2018)

مصطلحات موضوعية: biotinidase, novel mutation, partial, profound

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10089380/1/biotinidase%20deficiency%20a%20report%20of%20203%20patients%20from%20the%20southeastern%20part%20of%20Turkey.pdf; https://discovery.ucl.ac.uk/id/eprint/10089380/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10089380/1/biotinidase%20deficiency%20a%20report%20of%20203%20patients%20from%20the%20southeastern%20part%20of%20Turkey.pdf
https://discovery.ucl.ac.uk/id/eprint/10089380/

المؤلفون: Kör, D, Yılmaz, BŞ, Bulut, FD, Ceylaner, S, Mungan, NÖ

المصدر: Journal of Pediatric Endocrinology and Metabolism , 30 (7) pp. 713-718. (2017)

مصطلحات موضوعية: BH4, divided daily doses, phenylketonuria

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10089381/1/%28BH4%29%20responsive%20phenylketonuria%20with%20sapropterin%20administered%20in%20two%20divided%20doses%20vs.%20a%20single%20daily%20dose.pdf; https://discovery.ucl.ac.uk/id/eprint/10089381/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10089381/1/%28BH4%29%20responsive%20phenylketonuria%20with%20sapropterin%20administered%20in%20two%20divided%20doses%20vs.%20a%20single%20daily%20dose.pdf
https://discovery.ucl.ac.uk/id/eprint/10089381/

المؤلفون: Şeker-Yılmaz B., Kör D., Tümgör G., Ceylaner S., Önenli-Mungan N.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: Citrin deficiency, Novel mutation, Prolonged neonatal jaundice

Relation: Turkish Journal of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.24953/turkjped.2017.03.012; https://hdl.handle.net/20.500.12605/18319; 59; 311; 314

الاتاحة: https://hdl.handle.net/20.500.12605/18319
https://doi.org/10.24953/turkjped.2017.03.012