Article
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2025
Cali Elisa, Quirin Tania, Rocca Clarissa, Efthymiou Stephanie, Riva Antonella, Marafi Dana, Zaki Maha S, Suri Mohnish, Dominguez Roberto, Elbendary Hasnaa M, Alavi Shahryar, Abdel-Hamid Mohamed S, Morsy Heba, Mau-Them Frederic Tran, Nizon Mathilde, Tesner Pavel, Ryba Lukáš, Zafar Faisal, Rana Nuzhat, Saadi Nebal W, Firoozfar Zahra, Gencpinar Pinar, Unay Bulent, Ustun Canan, Bruel Ange-Line, Coubes Christine, Stefanich Jennifer, Sezer Ozlem, Agolini Emanuele, Novelli Antonio, Vasco Gessica, Lettori Donatella, Milh Mathieu, Villard Laurent, Zeidler Shimriet, Opperman Henry, Strehlow Vincent, Issa Mahmoud Y, El Khassab Hebatallah, Chand Prem, Ibrahim Shahnaz, Rashidi-Nezhad Ali, Miryounesi Mohammad, Larki Pegah, Morrison Jennifer, Cristian Ingrid, Thiffault Isabelle, Bertsch Nicole L, Noh Grace J, Pappas John, Moran Ellen, Marinakis Nikolaos M, Traeger-Synodinos Joanne, Hosseini Susan, Abbaszadegan Mohammad Reza, Caumes Roseline, Vissers Lisenka E L M, Neshatdoust Maedeh, Montazer Zohour Mostafa, El Fahime Elmostafa, Canavati Christina, Kamal Lara, Kanaan Moien, Askander Omar, Voinova Victoria, Levchenko Olga, Haider Shahzhad, Halbach Sara S, Elias Maia Rayana, Mansoor Salehi, Jain Vivek, Tawde Sanjukta, Challa Viveka Santhosh R, Gowda Vykuntaraju K, Srinivasan Varunvenkat M, Victor Lucas Alves, Pinero-Banos Benito, Hague Jennifer, ElAwady Heba Ahmed, Maria de Miranda Henriques-Souza Adelia, Cheema Huma Arshad, Anjum Muhammad Nadeem, Idkaidak Sara, Alqarajeh Firas, Atawneh Osama, Mor-Shaked Hagar, Harel Tamar, Zifarelli Giovanni, Bauer Peter, Kok Fernando, Kitajima Joao Paulo, Monteiro Fabiola, Josahkian Juliana, Lesca Gaetan, Chatron Nicolas, Ville Dorothe, Murphy David, Neul Jeffrey L, Mullegama Sureni V, Begtrup Amber, Herman Isabella, Mitani Tadahiro, Posey Jennifer E, Tay Chee Geap, Javed Iram, Carr Lucinda, Kanani Farah, Beecroft Fiona, Hane Lee, Abdelkreem Elsayed, Macek Milan, Bispo Luciana, Elmaksoud Marwa Abd, Hashemi-Gorji Farzad, Pehlivan Davut, Amor David J, Jamra Rami Abou, Chung Wendy K, Ghayoor Karimiani Eshan, Campeau Philippe M, Alkuraya Fowzan S, Pagnamenta Alistair T, Gleeson Joseph G, Lupski James R, Striano Pasquale, Moreno-De-Luca Andres, Lafontaine Denis L J, Houlden Henry, Maroofian Reza