Results 131 to 140 of about 3,850 (167)
Expanding the genetic heterogeneity of intellectual disability
Human Genetics, 2017 S. Anazi, S. Maddirevula, V. Salpietro, Yasmine T. Asi, Saud Alsahli, Amal M Alhashem, H. Shamseldin, F. Alzahrani, N. Patel, N. Ibrahim, F. Abdulwahab, M. Hashem, Nadia Alhashmi, Fathiya Al Murshedi, Adila Al Kindy, Ahmad Alshaer, A. Rumayyan, Saeed Al Tala, W. Kurdi, Abdulaziz S. Alsaman, A. Alasmari, S. Banu, T. Sultan, M. Saleh, Hisham S. Alkuraya, M. Salih, H. Aldhalaan, T. Ben-Omran, Fatima Al Musafri, R. Ali, J. Suleiman, B. Tabarki, A. El-Hattab, Caleb Bupp, M. Alfadhel, Nada Al Tassan, D. Monies, S. Arold, M. Abouelhoda, T. Lashley, H. Houlden, E. Faqeih, F. Alkuraya +42 moresemanticscholar +1 more sourcePathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. [PDF]
Nat GenetAsadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N. +149 moreeuropepmc +1 more sourceRegulatory mechanisms of neuro inflammation from a gender perspective: interactions among astrocytes, sex hormones, and the gut-brain axis. [PDF]
Front Aging NeurosciShi JW, Meng XL, Ye Y, Wang YT, Ding HX, Qi WX, Feng R, Zhang K, Lei M. +8 moreeuropepmc +1 more source