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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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia von Ghosh, Shereen G, Breuss, Martin W, Schlachetzki, Zinayida, Chai, Guoliang, Ross, Danica, Stanley, Valentina, Sonmez, F Mujgan, Topaloglu, Haluk, Zaki, Maha S, Hosny, Heba, Gad, Shaimaa, Gleeson, Joseph G

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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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Insomnia, parasomnia, and predisposing factors in Turkish school children von Ozgun, Nezir, Sonmez, F Mujgan, Topbas, Murat, Can, Gamze, Goker, Zeynep

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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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Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly von Uctepe, Eyyup, Vona, Barbara, Esen, Fatma Nisa, Sonmez, F Mujgan, Smol, Thomas, Tümer, Sait, Mancılar, Hanifenur, Geylan Durgun, Dilan Ece, Boute, Odile, Moghbeli, Meysam, Ghayoor Karimiani, Ehsan, Hashemi, Narges, Bakhshoodeh, Behnoosh, Kim, Hyung Goo, Maroofian, Reza, Yesilyurt, Ahmet

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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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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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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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Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study von Cavusoglu, Dilek, Ozturk, Gulten, Turkdogan, Dilsad, Kurul, Semra Hiz, Yis, Uluc, Komur, Mustafa, Incecik, Faruk, Kara, Bulent, Sahin, Turkan, Unver, Olcay, Dilber, Cengiz, Mert, Gulen Gul, Gunay, Cagatay, Uzan, Gamze Sarikaya, Ersoy, Ozlem, Oktay, Yavuz, Mermer, Serdar, Tuncer, Gokcen Oz, Gungor, Olcay, Ozcora, Gul Demet Kaya, Gumus, Ugur, Sezer, Ozlem, Cetin, Gokhan Ozan, Demir, Fatma, Yilmaz, Arzu, Gurbuz, Gurkan, Topcu, Meral, Topaloglu, Haluk, Ceylan, Ahmet Cevdet, Ceylaner, Serdar, Gleeson, Joseph G., Icagasioglu, Dilara Fusun, Sonmez, F. Mujgan

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MR Spectroscopic Evaluation of Psychomotor Delay of Unknown Cause in Children von Kosucu, Polat, Erdemli, Sema, Sonmez, Mujgan, Kul, Sibel, Aksoy, Ayse

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Epilepsy prevalence in the 0-17 age group in trabzon, Turkey von Topbaş, Murat, Ozgün, Sükrü, Sönmez, Müjgan F, Aksoy, Ayşe, Can, Gamze, Yavuzyilmaz, Asuman, Can, Emine

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Cerebral creatine deficiency syndrome with a novel missense variant in SLC6A8 gene von Turan, Betül, Göktaş, Emine, Sönmez, F. Mujgan, Aydin, Halil Ibrahim, Aydogdu, Demet, Zamani, Ayse Gul, Yildirim, Mahmut Selman

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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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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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Vitamin D deficiency in healthy children and adolescents von Orun, Emel, Sezer, Seyma, Kanburoglu, M Kenan, Namuslu, Mehmet, Sonmez, F Mujgan

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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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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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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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A novel mutation in guanidinoacetate methyltransferase (GAMT) deficiency in two patients associated with epilepsy, developmental delay, hyperactivity, autistic behavior von Aydin, Halil Ibrahim, Sonmez, F. Mujgan

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