MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia von Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S. C., Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S., Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G., Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent

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Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder von Tărlungeanu, Dora C., Deliu, Elena, Dotter, Christoph P., Kara, Majdi, Janiesch, Philipp Christoph, Scalise, Mariafrancesca, Galluccio, Michele, Tesulov, Mateja, Morelli, Emanuela, Sonmez, Fatma Mujgan, Bilguvar, Kaya, Ohgaki, Ryuichi, Kanai, Yoshikatsu, Johansen, Anide, Esharif, Seham, Ben-Omran, Tawfeg, Topcu, Meral, Schlessinger, Avner, Indiveri, Cesare, Duncan, Kent E., Caglayan, Ahmet Okay, Gunel, Murat, Gleeson, Joseph G., Novarino, Gaia

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Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy von Sonmez, Fatma Mujgan, Uctepe, Eyyup, Aktas, Dilek, Alikasifoglu, Mehmet

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Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene von Sonmez, Fatma Mujgan, Uctepe, Eyyup, Gunduz, Mehmet, Gormez, Zeliha, Erpolat, Seval, Oznur, Murat, Sagiroglu, Mahmut Samil, Demirci, Huseyin, Gunduz, Esra

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Effect of Antiepileptic Drugs on Plasma Lipids, Lipoprotein (a), and Liver Enzymes von Mujgan Sonmez, Fatma, Demir, Ercan, Orem, Asim, Yildirmis, Sermet, Orhan, Fazil, Aslan, Adnan, Topbas, Murat

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Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans von Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.

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Complementary and alternative medicine use in Turkish children with epilepsy von Goker, Zeynep, Serin, Hepsen Mine, Hesapcioglu, Selma, Cakir, Murat, Sonmez, Fatma Müjgan

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Macular exanthema in a child with rotavirus gastroenteritis: a case report von Zulfikar Akelma, Ahmet, Nevzat Cizmeci, Mehmet, Mete, Emin, Dilara Malli, Dilsad, Erpolat, Seval, Mujgan Sonmez, Fatma

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Severe Form of Cockayne Syndrome With Varying Clinical Presentation and No Photosensitivity in a Family von Sonmez, Fatma Müjgan, Celep, Figen, Ugur, Sibel Aylin

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Brainstem encephalitis and acute disseminated encephalomyelitis following mumps von Sonmez, Fatma Mujgan, Ödemis, Ender, Ahmetoglu, Ali, Ayvaz, Adnan

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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome von van der Sluijs, Pleuntje J., Jansen, Sandra, Vergano, Samantha A., Adachi-Fukuda, Miho, Alanay, Yasemin, AlKindy, Adila, Baban, Anwar, Bayat, Allan, Beck-Wödl, Stefanie, Berry, Katherine, Bijlsma, Emilia K., Bok, Levinus A., Brouwer, Alwin F. J., van der Burgt, Ineke, Campeau, Philippe M., Canham, Natalie, Chrzanowska, Krystyna, Dahan, Karin, De Rademaeker, Marjan, Destree, Anne, Dudding-Byth, Tracy, Earl, Rachel, Elcioglu, Nursel, Elias, Ellen R., Fagerberg, Christina, Gardham, Alice, Gener, Blanca, Gerkes, Erica H., Grasshoff, Ute, van Haeringen, Arie, Heitink, Karin R., Herkert, Johanna C., den Hollander, Nicolette S., Horn, Denise, Hunt, David, Kant, Sarina G., Kato, Mitsuhiro, Kayserili, Hülya, Kersseboom, Rogier, Kilic, Esra, Krajewska-Walasek, Malgorzata, Lammers, Kylin, Laulund, Lone W., Lederer, Damien, Lees, Melissa, López-González, Vanesa, Maas, Saskia, Mancini, Grazia M. S., Marcelis, Carlo, Martinez, Francisco, Maystadt, Isabelle, McGuire, Marianne, McKee, Shane, Mehta, Sarju, Metcalfe, Kay, Mizuno, Seiji, Moeschler, John B., Netzer, Christian, Ockeloen, Charlotte W., Oehl-Jaschkowitz, Barbara, Okamoto, Nobuhiko, Olminkhof, Sharon N. M., Orellana, Carmen, Pasquier, Laurent, Pottinger, Caroline, Riehmer, Vera, Robertson, Stephen P., Roifman, Maian, Rooryck, Caroline, Ropers, Fabienne G., Rosello, Monica, Ruivenkamp, Claudia A. L., Sagiroglu, Mahmut S., Sallevelt, Suzanne C. E. H., Sanchis Calvo, Amparo, Simsek-Kiper, Pelin O., Soares, Gabriela, Solaeche, Lucia, Sonmez, Fatma Mujgan, Splitt, Miranda, Steenbeek, Duco, Stegmann, Alexander P. A., Stumpel, Constance T. R. M., Tanabe, Saori, Uctepe, Eyyup, Utine, G. Eda, Veenstra-Knol, Hermine E., Venkateswaran, Sunita, Vincent-Delorme, Catherine, Vulto-van Silfhout, Anneke T., Wheeler, Patricia, Wilson, Golder N., Wilson, Louise C., Wollnik, Bernd, Kosho, Tomoki, Wieczorek, Dagmar, Eichler, Evan, Pfundt, Rolph, de Vries, Bert B. A., Santen, Gijs W. E.

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TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature von Uctepe, Eyyup, Yesilyurt, Ahmet, Esen, Fatma Nisa, Tümer, Sait, Mancılar, Hanifenur, Sonmez, Fatma Mujgan

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Vitamin D Deficiency in Children With Newly Diagnosed Idiopathic Epilepsy von Sonmez, Fatma Mujgan, Donmez, Ahsen, Namuslu, Mehmet, Canbal, Metin, Orun, Emel

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Exantema macular en un niño con gastroenteritis por rotavirus: informe de caso von Zulfikar Akelma, Ahmet, Nevzat Cizmeci, Mehmet, Mete, Emin, Dilara Malli, Dilsad, Erpolat, Seval, Mujgan Sonmez, Fatma

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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome von KRIEGER, Michael, ROOS, Andreas, FINKEL, Richard S, GOEBEL, Hans H, HÄUSSLER, Martin, KINGSTON, Helen, KIRSCHNER, Janbernd, MEDNE, Livija, MUSCHKE, Petra, RIVIER, François, RUDNIK-SCHÖNEBORN, Sabine, SPENGLER, Sabrina, STENDEL, Claudia, INZANA, Francesca, STANZIAL, Franco, BENEDICENTI, Francesco, SYNOFZIK, Matthis, TARATUTO, Ana Lia, PIRRA, Laura, TAY STACEY, Kiat-Hong, TOPALOGLU, Haluk, UYANIK, Gökhan, WAND, Dorothea, CLAEYS, Kristl G, WILLIAMS, Denise, ZERRES, Klaus, WEIS, Joachim, SENDEREK, Jan, SONMEZ, Fatma Mujgan, BAUDIS, Michael, BAUER, Peter, BORNEMANN, Antje, DE GOEDE, Christian, DUFKE, Andreas

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Methylphenidate-Induced Acute Orofacial and Extremity Dyskinesia von Yilmaz, Ayse Esra, Donmez, Ahsen, Orun, Emel, Tas, Tugba, Isık, Bunyamin, Sonmez, Fatma Mujgan

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A novel mutation in two cousins with guanidinoacetate methyltransferase (GAMT) deficiency presented with autism von Aydın, Halil İbrahim, Sönmez, Fatma Müjgan

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The effects of topiramate and valproate therapy on insulin, c-peptide, leptin, neuropeptide Y, adiponectin, visfatin, and resistin levels in children with epilepsy von Sonmez, Fatma Mujgan, Zaman, Dilek, Aksoy, Ayse, Deger, Orhan, Aliyazicioglu, Rezzan, Karaguzel, Gülay, Fazlioglu, Kerim

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Blood levels of cytokines in children with idiopathic partial and generalized epilepsy von Sonmez, Fatma Mujgan, Serin, Hepsen Mine, Alver, Ahmet, Aliyazicioglu, Rezzan, Cansu, Ali, Can, Gamze, Zaman, Dilek

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The Very Low Density Lipoprotein Receptor–Associated Pontocerebellar Hypoplasia and Dysmorphic Features in Three Turkish Patients von Sonmez, Fatma Mujgan, Gleeson, Joseph G., Celep, Figen, Kul, Sibel

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