Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors von Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E., Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S., Hossni, Heba A.A., Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G., Rosti, Rasim Ö., Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F., Kumandaş, Sefer, Minja, Frank J., Erson-Omay, E. Zeynep, Mane, Shrikant M., Lifton, Richard P., Xu, Tian, Keshishian, Haig, Dobyns, William B., Chi, Neil C., Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G., Günel, Murat

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METAP1 mutation is a novel candidate for autosomal recessive intellectual disability von Caglayan, Ahmet Okay, Aktar, Fesih, Bilguvar, Kaya, Baranoski, Jacob F, Akgumus, Gozde Tugce, Harmanci, Akdes Serin, Erson-Omay, Emine Zeynep, Yasuno, Katsuhito, Caksen, Huseyin, Gunel, Murat

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NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy von Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F, Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Erson-Omay, Emine Zeynep, Harmanci, Akdes Serin, Mishra-Gorur, Ketu, Freeze, Hudson H, Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat

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Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors von Mishra-Gorur, Ketu, Çağlayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüş, Gözde Tuğce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüş, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba A A, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çağlar, Caner, Çağlar, Çağri, Dölen, Duygu, Baranoski, Jacob F, Kumandaş, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Šestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat

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Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations von Caglayan, Ahmet Okay, MD, Baranoski, Jacob F, Aktar, Fesih, MD, Han, Wengi, PhD, Tuysuz, Beyhan, MD, Guzel, Aslan, MD, Guclu, Bulent, MD, Kaymakcalan, Hande, MD, Aktekin, Berrin, MD, Akgumus, Gozde Tugce, MS, Murray, Phillip B., MS, Erson-Omay, Emine Z., PhD, Caglar, Caner, MS, Bakircioglu, Mehmet, MS, Sakalar, Yildirim Bayezit, MD, Guzel, Ebru, MD, Demir, Nihat, MD, Tuncer, Oguz, MD, Senturk, Senem, MD, Ekici, Baris, MD, Minja, Frank J., MD, Šestan, Nenad, Yasuno, Katsuhito, PhD, Bilguvar, Kaya, MD, Caksen, Huseyin, MD, Gunel, Murat, MD

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Mutations inKATNB1Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors von Mishra-Gorur, Ketu, Çaglayan, Ahmet Okay, Schaffer, Ashleigh E, Chabu, Chiswili, Henegariu, Octavian, Vonhoff, Fernando, Akgümüs, Gözde Tugce, Nishimura, Sayoko, Han, Wenqi, Tu, Shu, Baran, Burçin, Gümüs, Hakan, Dilber, Cengiz, Zaki, Maha S, Hossni, Heba AA, Rivière, Jean-Baptiste, Kayserili, Hülya, Spencer, Emily G, Rosti, Rasim Ö, Schroth, Jana, Per, Hüseyin, Çaglar, Caner, Çaglar, Çagri, Dölen, Duygu, Baranoski, Jacob F, Kumandas, Sefer, Minja, Frank J, Erson-Omay, E Zeynep, Mane, Shrikant M, Lifton, Richard P, Xu, Tian, Keshishian, Haig, Dobyns, William B, Chi, Neil C, Sestan, Nenad, Louvi, Angeliki, Bilgüvar, Kaya, Yasuno, Katsuhito, Gleeson, Joseph G, Günel, Murat

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METAP1mutation is a novel candidate for autosomal recessive intellectual disability von Caglayan, Ahmet Okay, Aktar, Fesih, Bilguvar, Kaya, Baranoski, Jacob F., Akgumus, Gozde Tugce, Harmanci, Akdes Serin, Erson-Omay, Emine Zeynep, Yasuno, Katsuhito, Caksen, Huseyin, Gunel, Murat

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Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome von Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., Saleem, Sahar N., Musaev, Damir, McEvoy‐Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson‐Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.

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Loss of Protocadherin‐12 L eads to D iencephalic‐ M esencephalic J unction D ysplasia S yndrome von Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., Saleem, Sahar N., Musaev, Damir, McEvoy‐Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson‐Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.

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