Detection of ictal apnea refines the clinical spectrum of ATRX syndrome by Galal Banat, Friedrich G. Woermann, Rami Abou Jamra, Christian G. Bien, Christian Brandt

Get full text

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. by Yoshiko Murakami, Hasan Tawamie, Yusuke Maeda, Christian Büttner, Rebecca Buchert, Farah Radwan, Stefanie Schaffer, Heinrich Sticht, Michael Aigner, André Reis, Taroh Kinoshita, Rami Abou Jamra

Get full text

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans by Akiko Soneda Hashimoto, Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao, Nageswara Pilli, Tian Liu, Jonathon Russell, Rebecca S. Tooze, Stephen R.F. Twigg, Siddharth Banka, Elizabeth Sweeney, Simon J. McGowan, Samantha J.L. Knight, Jenny C. Taylor, Tawfiq Jamal Froukh, M. Irene Valenzuela Palafoll, Núria Martínez-Gil, Mar Costa-Roger, Maria Teresa Villarreal-Molina, Esther Lieberman Hernandez, Rami Abou Jamra, Felix Gattermann, Margarete Koch-Hogrebe, Dagmar Wieczorek, Paul A. Trainor, Alexander R. Moise, Andrew O.M. Wilkie, Maureen A. Kane

Get full text

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS by Avinash V. Dharmadhikari, Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah, Itaru Samejima, Yanwen Shen, Martin A. Wear, Kiara E. Moore, Elena Kondakova, Natalia Mitina, Theres Schaub, Grace K. Lee, Christine H. Umandap, Sara M. Berger, Alejandro D. Iglesias, Bernt Popp, Rami Abou Jamra, Heinz Gabriel, Stefan Rentas, Alyssa L. Rippert, Christopher Gray, Kosuke Izumi, Laura K. Conlin, Daniel C. Koboldt, Theresa Mihalic Mosher, Scott E. Hickey, Dara V. F. Albert, Haley Norwood, Amy Feldman Lewanda, Hongzheng Dai, Pengfei Liu, Tadahiro Mitani, Dana Marafi, Hatice Koçak Eker, Davut Pehlivan, Jennifer E. Posey, Natalie C. Lippa, Natalie Vena, Erin L. Heinzen, David B. Goldstein, Cyril Mignot, Jean-Madeleine de Sainte Agathe, Nouriya Abbas Al-Sannaa, Mina Zamani, Saeid Sadeghian, Reza Azizimalamiri, Tahere Seifia, Maha S. Zaki, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Lama Alabdi, Fowzan Sami Alkuraya, Heba Dawoud, Aya Lofty, Peter Bauer, Giovanni Zifarelli, Erum Afzal, Faisal Zafar, Stephanie Efthymiou, Daniel Gossett, Meghan C. Towne, Raey Yeneabat, Belen Perez-Duenas, Ana Cazurro-Gutierrez, Edgard Verdura, Veronica Cantarin-Extremera, Ana do Vale Marques, Aleksandra Helwak, David Tollervey, Sandeep N. Wontakal, Vimla S. Aggarwal, Jill A. Rosenfeld, Victor Tarabykin, Shinya Ohta, James R. Lupski, Henry Houlden, William C. Earnshaw, Erica E. Davis, A. Arockia Jeyaprakash, Jun Liao

Get full text