What matters most by Adams, Keddy, Ashe, Gerald P, Chisholm, Janice, Daws, Tanja, Green, Stefanie, Holland, Tim, Hopwood, Marie-Clare, Marmoreo, Jean, McDiarmid, Adam, Morcom, Rick, Pewarchuk, Jesse A, Reggler, Jonathan, Perrot, Chantal, Rudnik, James, Smith, Pat, Sun, Christopher, Trouton, Konia, Weiss, Edward S, de Wet, Francois, Wiebe, Ellen, Yoshida, Lianne

Get full text

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders by Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Karimiani, Ehsan Ghayoor, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Tayfun, Gulsen Akay, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Monajemi, Gholamreza Bahrami, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Pinto Basto, Jorge, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Issa, Awatif Hameed, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

Get full text

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders by Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina

Get full text

Evaluating the Reliability and Validity of a New Pediatric Palliative Care Needs Assessment Tool (TH311A) by Michelson, Kelly, MD MPH, Downing, Kimberly, RN BSN JD, Rudnik, Margaret, MBA, Cloen, Jason, MSW, Donnelly, James, PhD

Get full text

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual di... by Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O, Zaki, Maha S, Duan, Ruizhi, Zhu, Changlian, Xu, Yiran, Gao, Chao, Sepulveda-Morales, Tania, Maroofian, Reza, Alkhawaja, Issam A, Khawaja, Mariam, Alhalasah, Hunaida, Houlden, Henry, Madden, Jill A, Turchetti, Valentina, Marafi, Dana, Agrawal, Pankaj B, Schatz, Ulrich, Rotenberg, Ari, Rotenberg, Joshua, Mancini, Grazia M S, Bakhtiari, Somayeh, Kruer, Michael, Thiffault, Isabelle, Hirsch, Steffen, Hempel, Maja, Stühn, Lara G, Haack, Tobias B, Posey, Jennifer E, Lupski, James R, Lee, Hyunpil, Sarn, Nicholas B, Eng, Charis, Gonzaga-Jauregui, Claudia, Zhang, Bin, Wang, Heng

Get full text