المؤلفون: Ozkan, O., Adiguzel, S., Kar, S., Yakistiran, S., Cesaretli, Y., Karaer, K. Z.

المصدر: Journal of Venomous Animals and Toxins including Tropical Diseases. January 2007 13(2)

مصطلحات موضوعية: scorpion, antivenom, Androctonus crassicauda, Mesobuthus gibbosus, paraspecific activity

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1678-91992007000200008Test

المؤلفون: Karaer, D., Durak, T., Karaer, K.

مصطلحات موضوعية: CCBE1 protein, human, calcium binding protein, tumor suppressor protein, case report, craniofacial malformation, intestine lymphangiectasia, lymphedema, mutation, Calcium-Binding Proteins, Craniofacial Abnormalities, Hennekam lymphangiectasia lymphedema syndrome, Humans, Lymphangiectasis, Intestinal, Tumor Suppressor Proteins

العلاقة: Clinical Dysmorphology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/56860Test; https://doi.org/10.1097/MCD.0000000000000488Test; 33; 87; 89; 2-s2.0-85186840507

الإتاحة: https://doi.org/10.1097/MCD.0000000000000488Test
https://hdl.handle.net/11499/56860Test

المؤلفون: Karaer K., Karaer D., Yüksel Z., IÅŸikay S.

مصطلحات موضوعية: Neurodevelopmental Disorders, Pedigree, Seizures, NEDMAS, novel mutation, SARS1 gene, genomic DNA, transcription factor RUNX1, Article, ataxia, cerebellum, child, clinical article, developmental delay, electroencephalogram, female, head circumference, human, intellectual impairment, karyotype, male, mental disease, microcephaly, missense mutation, muscle hypotonia, nuclear magnetic resonance imaging, seizure, thrombocytopenia, whole exome sequencing, genetics

العلاقة: Clinical Dysmorphology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1097/MCD.0000000000000426Test; https://hdl.handle.net/11499/47564Test; 31; 167; 173; 2-s2.0-85138441589; WOS:000852774300001

الإتاحة: https://doi.org/10.1097/MCD.0000000000000426Test
https://hdl.handle.net/11499/47564Test

المؤلفون: Pekkinen, M, Grigelioniene, G, Akin, L, Shah, K, Karaer, K, Kurtoglu, S, Ekbote, A, Aycan, Z, Sagsak, E, Danda, S, Astrom, E, Makitie, O

المصدر: American journal of medical genetics. Part A. 173(12):3132-3135

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:137012144Test

المؤلفون: Pannone, L, BOCCHINFUSO, GIANFRANCO, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, Mc, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, Bd, Dallapiccola, B, STELLA, LORENZO, Ferrero, Gb, Martinelli, S, Tartaglia, M.

المساهمون: Pannone, L, Bocchinfuso, G, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, M, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, B, Dallapiccola, B, Stella, L, Ferrero, G, Martinelli, S, Tartaglia, M

مصطلحات موضوعية: Noonan syndrome, PTPN11 mutation, genotype-phenotype correlation analysi, structural and functional studies, Settore CHIM/02 - CHIMICA FISICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28074573; info:eu-repo/semantics/altIdentifier/wos/WOS:000397454000012; journal:HUMAN MUTATION; http://hdl.handle.net/2108/175492Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85012045855

الإتاحة: https://doi.org/10.1002/humu.23175Test
http://hdl.handle.net/2108/175492Test

المؤلفون: Verloes, A., Haye, D., Toutain, A., Bonneau, D., Nielsen, I. Kibaek, Lund, I. Bay, Bogaard, P., Leenskjold, S., Karaer, K., Wild, K. T., Grand, K. L., Astiazaran, M. C., Gonzalez-Nieto, L. A., Carvalho, A., Lehalle, D., Amudhavalli, S. M., Repnikova, E., Saunders, C., Thiffault, I., Saadi, I., Li, D., Hakonarson, H., Vial, Y., Zackai, E., Callier, P., Drunat, S., Bhoj, E. E.

المصدر: Verloes , A , Haye , D , Toutain , A , Bonneau , D , Nielsen , I K , Lund , I B , Bogaard , P , Leenskjold , S , Karaer , K , Wild , K T , Grand , K L , Astiazaran , M C , Gonzalez-Nieto , L A , Carvalho , A , Lehalle , D , Amudhavalli , S M , Repnikova , E , Saunders , C , Thiffault , I , Thiffault , I , Saadi , I , Li , D , Hakonarson , H , ....

العلاقة: https://vbn.aau.dk/da/publications/9ad86380-4bc5-4e18-b569-2802983de0aeTest

الإتاحة: https://vbn.aau.dk/da/publications/9ad86380-4bc5-4e18-b569-2802983de0aeTest
https://www.nature.com/articles/s41431-019-0494-2Test

المؤلفون: Perk, P., Ozcelik, A., Karaer, K., Yucel, G.

المصدر: European Journal of Paediatric Neurology ; volume 21, page e51 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.ejpn.2017.04.893Test
https://api.elsevier.com/content/article/PII:S1090379817311522?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379817311522?httpAccept=text/plainTest

المؤلفون: Scott E. M., Halees A., Itan Y., Spencer E. G., He Y., Azab M. A., Gabriel S. B., Belkadi A., Boisson B., Abel L., Clark A. G., Rahim S. A., Alkuraya F. S., Casanova J. -L., Gleeson J. G., Abdou M., Abhytankar A., Adimi P., Ahmad J., Akcakus M., Aksu G., Al Hajjar S., Al Juamaah S., Al Muhsen S., Al Sannaa N., Al Tameni S., Al-Aama J., Al-Allawi N., Al-Baradie R., Al-Gazali L., Al-Hashem A., Al-Herz W., Al-Jeaid D., Al-Tawari A., Alangari A., Alcais A., AlFawaz T. S., Alsum Z., Ammar-Khodja A., Amouian S., Arikan C., Aryani O., Aslanger A., Aydogmus C., Aytekin C., Azam M., Bansagi B., Barbouche M. -R., Bastaki L., Ben-Omran T., Bindu P. S., Blancas L., Boisson-Dupuis S., Bonnet D., Stambouli O. B., Bousfiha A., Boussafara L., Boutros J., Bustamante J., Caksen H., Camcioglu Y., Catherinot E., Celik F. C., Ciancanelli M., Cipe F. E., Clark G., Cobat A., Comu S., Condie A., Condino-Neto A., Desai M., Dobyns W., Dogu F., Domaia M., Dorum M., Egritas O., El Azbaoui S., El Baghdadi J., El Ruby M., El-Harouni A., Elfeky R. A., Elghazali G., Faqeih E., Fenerci E., Fieschi C., Funda C., Gamal I., Gelik U., Genel F., Gezdirici A., Girisha K. M., Goldstein A., Grattan-Smith P., Gupta N., Hahn J., Hatipoglu N., Hennekam R., Houshmand M., Ichai P., Ikinciogullari A., Ismail S., Jalas C., Jouanguy E., Kabra M., Kalkan G., Kara M., Karaca N., Karaer K., Kariminejad A., Kayserili H., Keser-Emiroglu M., Kilic S. S., Kissani N., Kokron C., Koul R., Kutukculer N., Lanternier F., Mahdaviani A., Mahlaoui N., Mansour L., Mansouri D., Margari L., Valente E. M., Marzouki N., Masri A., Megahed A., Megahed H., Mekki N., Mesdaghi M., Mikati M., Mojahedi F., Mulley J., Nampoothiri S., Navarrete C., Omar T., Oraby A., Pandaluz A., Parvaneh N., Patiroglu T., Koc Z. P., Pellier I., Picard C., Puel A., Raas-Rothschild A., Rajab A., Raoult D., Reisli I., Rezaei N., Sabri A., Sahin Y., Saleem L., Salem F., AlSediq N. S., Sanal O., Sanger T., Shakankiry H., Shang L., Shehata N., Shembesh N., Shkalim V., Softah A., Sogaty S., Soliman N., Sonmez-Aunaci F., Sztriha L., Taibi-Berrah L., Temtamy S., Tonekaboni H., Trauner D., Tuysuz B., Varan A., Vogt G., Walsh C., Woods G., Yesil G., Yildiran A., Yildiz B., Yuksel A., Zaki M., Zhang S. Y.

المساهمون: Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Rahim, S. A., Alkuraya, F. S., Casanova, J. -L., Gleeson, J. G., Abdou, M., Abhytankar, A., Adimi, P., Ahmad, J., Akcakus, M., Aksu, G., Al Hajjar, S., Al Juamaah, S., Al Muhsen, S., Al Sannaa, N., Al Tameni, S., Al-Aama, J., Al-Allawi, N., Al-Baradie, R., Al-Gazali, L., Al-Hashem, A., Al-Herz, W., Al-Jeaid, D., Al-Tawari, A., Alangari, A., Alcais, A., Alfawaz, T. S., Alsum, Z., Ammar-Khodja, A., Amouian, S., Arikan, C., Aryani, O., Aslanger, A., Aydogmus, C., Aytekin, C., Azam, M., Bansagi, B., Barbouche, M. -R., Bastaki, L., Ben-Omran, T., Bindu, P. S., Blancas, L., Boisson-Dupuis, S., Bonnet, D., Stambouli, O. B., Bousfiha, A., Boussafara, L., Boutros, J., Bustamante, J., Caksen, H., Camcioglu, Y., Catherinot, E., Celik, F. C., Ciancanelli, M., Cipe, F. E., Clark, G., Cobat, A., Comu, S., Condie, A., Condino-Neto, A., Desai, M., Dobyns, W., Dogu, F., Domaia, M., Dorum, M., Egritas, O., El Azbaoui, S., El Baghdadi, J., El Ruby, M., El-Harouni, A., Elfeky, R. A., Elghazali, G., Faqeih, E., Fenerci, E., Fieschi, C., Funda, C., Gamal, I., Gelik, U., Genel, F., Gezdirici, A., Girisha, K. M., Goldstein, A., Grattan-Smith, P., Gupta, N., Hahn, J., Hatipoglu, N., Hennekam, R., Houshmand, M., Ichai, P., Ikinciogullari, A.

العلاقة: volume:48; issue:9; firstpage:1071; lastpage:1079; numberofpages:9; journal:NATURE GENETICS; https://hdl.handle.net/11571/1477489Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978705937

الإتاحة: https://doi.org/10.1038/ng.3592Test
https://hdl.handle.net/11571/1477489Test

المؤلفون: Güngör O., Özkaya A.K., Güngör G., Karaer K., Dilber C., Aydin K.

المساهمون: Çukurova Üniversitesi

مصطلحات موضوعية: encephalomyopathy, microcephaly, mitochondrial DNA depletion, SUCLA2

العلاقة: Pediatrics International; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://dx.doi.org/10.1111/ped.12921Test; https://hdl.handle.net/20.500.12605/18005Test; 58; 659; 661

الإتاحة: https://doi.org/20.500.12605/18005Test
https://doi.org/10.1111/ped.12921Test
https://hdl.handle.net/20.500.12605/18005Test

المؤلفون: Taskin, B.D., Karalok, Z.S., Gurkas, E., Aydin, K., Aydogmus, U., Ceylaner, S., Karaer, K., Yilmaz, C.

المصدر: European Journal of Paediatric Neurology ; volume 19, page S48 ; ISSN 1090-3798

مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1090-3798Test(15)30157-4
https://api.elsevier.com/content/article/PII:S1090379815301574?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1090379815301574?httpAccept=text/plainTest