HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study

بواسطة Oppl, Bastian, Husar-Memmer, Emma, Pfefferkorn, Svea, Blank, Martha, Zenz, Peter, Gollob, Eva, Wurnig, Christian, Engel, Alfred, Stadlmayr, Andreas, Uyanik, Gökhan, Brozek, Wolfgang, Klaushofer, Klaus, Zwerina, Jochen, Datz, Christian
الحاوية / القاعدة PLoS One (2018)

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

بواسطة Kumar, Ravinesh A., Pilz, Daniela T., Babatz, Timothy D., Cushion, Thomas D., Harvey, Kirsten, Topf, Maya, Yates, Laura, Robb, Stephanie, Uyanik, Gökhan, Mancini, Gracia M.S., Rees, Mark I., Harvey, Robert J., Dobyns, William B.
منشور في 2010

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

بواسطة Morris-Rosendahl, Deborah J, Segel, Reeval, Born, A Peter, Conrad, Christoph, Loeys, Bart, Brooks, Susan Sklower, Müller, Laura, Zeschnigk, Christine, Botti, Christina, Rabinowitz, Ron, Uyanik, Gökhan, Crocq, Marc-Antoine, Kraus, Uwe, Degen, Ingrid, Faes, Fran
منشور في 2010

Genetic Landscape of congenital myasthenic syndromes from Turkey: Novel mutations and clinical insights

بواسطة Yiş, Uluç, Becker, Kerstin, Kurul, Semra Hız, Uyanik, Gökhan, Bayram, Erhan, Haliloğlu, Göknur, Polat, Ayşe İpek, Ayanoğlu, Müge, Okur, Derya, Tosun, Ayşe Fahriye, Serdaroğlu, Gül, Yilmaz, Sanem, Topaloğlu, Haluk, Anlar, Banu, Cirak, Sebahattin, Engel, Andrew G.
الحاوية / القاعدة J Child Neurol (2017)

Clinical, Hematologic, Biologic and Molecular Characteristics of Patients with Myeloproliferative Neoplasms and a Chronic Myelomonocytic Leukemia-Like Phenotype

بواسطة Heibl, Sonja, Gisslinger, Bettina, Jäger, Eva, Barna, Agnes, Gurbisz, Michael, Stegemann, Maike, Bettelheim, Peter, Machherndl-Spandl, Sigrid, Pfeilstöcker, Michael, Nösslinger, Thomas, Uyanik, Gökhan, Hoermann, Gregor, Stauder, Reinhard, Thaler, Josef, Kusec, Rajko, Valent, Peter, Gisslinger, Heinz, Geissler, Klaus
الحاوية / القاعدة Cancers (Basel) (2020)

Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey

بواسطة YİŞ, ULUÇ, DİNİZ, GÜLDEN, HAZAN, FILIZ, DAİMAGÜLER, HÜLYA SEVCAN, BAYSAL, BAHAR TOKLU, BAYDAN, FIGEN, AKINCI, GÜLÇIN, ÜNALP, AYCAN, AKTAN, GÜL, BAYRAM, ERHAN, HIZ, SEMRA, PAKETÇİ, CEM, OKUR, DERYA, ÖZER, ERDENER, DANYELİ, AYÇA ERSEN, POLAT, MUZAFFER, UYANIK, GÖKHAN, ÇIRAK, SEBAHATTIN
الحاوية / القاعدة Acta Myol (2018)

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

بواسطة Kortüm, Fanny, Das, Soma, Flindt, Max, Morris-Rosendahl, Deborah J., Stefanova, Irina, Goldstein, Amy, Horn, Denise, Klopocki, Eva, Kluger, Gerhard, Martin, Peter, Rauch, Anita, Roumer, Agathe, Saitta, Sulagna, Walsh, Laurence E., Wieczorek, Dagmar, Uyanik, Gökhan, Kutsche, Kerstin, Dobyns, William B.
الحاوية / القاعدة J Med Genet (2011)

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

بواسطة Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
منشور في 2012

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

بواسطة Wiessner, Manuela, Maroofian, Reza, Ni, Meng-Yuan, Pedroni, Andrea, Müller, Juliane S, Stucka, Rolf, Beetz, Christian, Efthymiou, Stephanie, Santorelli, Filippo M, Alfares, Ahmed A, Zhu, Changlian, Uhrova Meszarosova, Anna, Alehabib, Elham, Bakhtiari, Somayeh, Janecke, Andreas R, Otero, Maria Gabriela, Chen, Jin Yun Helen, Peterson, James T, Strom, Tim M, De Jonghe, Peter, Deconinck, Tine, De Ridder, Willem, De Winter, Jonathan, Pasquariello, Rossella, Ricca, Ivana, Alfadhel, Majid, van de Warrenburg, Bart P, Portier, Ruben, Bergmann, Carsten, Ghasemi Firouzabadi, Saghar, Jin, Sheng Chih, Bilguvar, Kaya, Hamed, Sherifa, Abdelhameed, Mohammed, Haridy, Nourelhoda A, Maqbool, Shazia, Rahman, Fatima, Anwar, Najwa, Carmichael, Jenny, Pagnamenta, Alistair, Wood, Nick W, Tran Mau-Them, Frederic, Haack, Tobias, Di Rocco, Maja, Ceccherini, Isabella, Iacomino, Michele, Zara, Federico, Salpietro, Vincenzo, Scala, Marcello, Rusmini, Marta, Xu, Yiran, Wang, Yinghong, Suzuki, Yasuhiro, Koh, Kishin, Nan, Haitian, Ishiura, Hiroyuki, Tsuji, Shoji, Lambert, Laëtitia, Schmitt, Emmanuelle, Lacaze, Elodie, Küpper, Hanna, Dredge, David, Skraban, Cara, Goldstein, Amy, Willis, Mary J H, Grand, Katheryn, Graham, John M, Lewis, Richard A, Millan, Francisca, Duman, Özgür, Dündar, Nihal, Uyanik, Gökhan, Schöls, Ludger, Nürnberg, Peter, Nürnberg, Gudrun, Catala Bordes, Andrea, Seeman, Pavel, Kuchar, Martin, Darvish, Hossein, Rebelo, Adriana, Bouçanova, Filipa, Medard, Jean-Jacques, Chrast, Roman, Auer-Grumbach, Michaela, Alkuraya, Fowzan S, Shamseldin, Hanan, Al Tala, Saeed, Rezazadeh Varaghchi, Jamileh, Najafi, Maryam, Deschner, Selina, Gläser, Dieter, Hüttel, Wolfgang, Kruer, Michael C, Kamsteeg, Erik-Jan, Takiyama, Yoshihisa, Züchner, Stephan, Baets, Jonathan, Synofzik, Matthis, Schüle, Rebecca, Horvath, Rita, Houlden, Henry, Bartesaghi, Luca, Lee, Hwei-Jen, Ampatzis, Konstantinos, Pierson, Tyler Mark, Senderek, Jan
الحاوية / القاعدة Brain (2021)