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Journal Article
Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T. and Cirak, Sebahattin (2018). A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev., 40 (6). S. 480 - 484. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131
Bamborschke, Daniel, Pergande, Matthias, Daimagueler, Huelya Sevcan, Mangold, Elisabeth, Doetsch, Joerg, Herkenrath, Peter, Cirak, Sebahattin and Fazeli, Walid (2019). Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. Neuropediatrics, 50 (6). S. 378 - 382. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899
Haliloglu, Goknur, Becker, Kerstin, Temucin, Cagri, Talim, Beril, Kucuksahin, Nalan, Pergande, Matthias, Motameny, Susanne, Nurnberg, Peter, Aydingoz, Ustun 
ORCID: 0000-0002-4325-847X, Topaloglu, Haluk and Cirak, Sebahattin
(2017).
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
J. Hum. Genet., 62 (4).
S. 497 - 502.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1435-232X
Karaoglu, Pakize, Quizon, Nicolas, Pergande, Matthias, Wang, Haicui, Polat, Ayse Ipek, Ersen, Ayca, Ozer, Erdener, Willkomm, Lena, Kurul, Semra Hiz, Heredia, Raul, Yis, Uluc, Selcen, Duygu and Cirak, Sebahattin (2017). Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev., 39 (4). S. 361 - 365. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131
Pergande, Matthias, Motameny, Susanne, Oezdemir, Oezkan, Kreutzer, Mona, Wang, Haicui, Daimagueler, Huelya-Sevcan, Becker, Kerstin, Karakaya, Mert, Ehrhardt, Harald ORCID: 0000-0003-4587-1734, Elcioglu, Nursel, Ostojic, Slavica, Chao, Cho-Ming, Kawalia, Amit, Duman, Ozgur, Koy, Anne, Hahn, Andreas, Reimann, Jens, Schoner, Katharina, Schaenzer, Anne, Westhoff, Jens H., Schwaibold, Eva Maria Christina, Cossee, Mireille, Imbert-Bouteille, Marion, von Pein, Harald, Haliloglu, Goknur, Topaloglu, Haluk, Altmueller, Janine, Nuernberg, Peter, Thiele, Holger ORCID: 0000-0002-0169-998X, Heller, Raoul and Cirak, Sebahattin
(2020).
The genomic and clinical landscape of fetal akinesia.
Genet. Med., 22 (3).
S. 511 - 524.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
Shamseldin, Hanan E., Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal ORCID: 0000-0002-9668-7809, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa and Alkuraya, Fowzan S.
(2018).
Molecular autopsy in maternal-fetal medicine.
Genet. Med., 20 (4).
S. 420 - 428.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1530-0366
Wang, Haicui, Bayram, Ayse Kacar, Sprute, Rosaenn, Ozdemir, Ozkan, Cooper, Emily, Pergande, Matthias, Efthymiou, Stephanie, Nedic, Ivana, Mazaheri, Neda, Stumpfe, Katharina, Malamiri, Reza Azizi, Shariati, Gholamreza, Zeighami, Jawaher, Bayram, Nurettin, Naghibzadeh, Seyed Kianoosh, Tajik, Mohamad, Yasar, Mehmet, Guven, Ahmet Sami, Bibi, Farah, Sultan, Tipu, Salpietro, Vincenzo, Houlden, Henry, Per, Huseyin, Galehdari, Hamid, Shalbafan, Bita, Jamshidi, Yalda ORCID: 0000-0003-0151-6482 and Cirak, Sebahattin
(2019).
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
Front. Neurosci., 13.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 1662-453X