A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
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Published:2022-10
Issue:10
Volume:24
Page:2194-2203
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Calì ElisaORCID, Lin Sheng-Jia, Rocca Clarissa, Sahin Yavuz, Al Shamsi Aisha, El Chehadeh Salima, Chaabouni Myriam, Mankad Kshitij, Galanaki Evangelia, Efthymiou Stephanie, Sudhakar Sniya, Athanasiou-Fragkouli Alkyoni, Çelik Tamer, Narlı Nejat, Bianca Sebastiano, Murphy David, De Carvalho Moreira Francisco Martins, Andrea Accogli , Petree Cassidy, Huang Kevin, Monastiri Kamel, Edizadeh Masoud, Nardello Rosaria, Ognibene Marzia, De Marco Patrizia, Ruggieri Martino, Zara Federico, Striano Pasquale, Şahin Yavuz, Al-Gazali Lihadh, Abi Warde Marie Therese, Gerard Benedicte, Zifarelli Giovanni, Beetz Christian, Fortuna Sara, Soler Miguel, Valente Enza Maria, Varshney Gaurav, Maroofian Reza, Salpietro VincenzoORCID, Houlden Henry, Hannah Michael G., Bugiardini Enrico, Kriouile Yamna, El Khorassani Mohamed, Aguennouz Mhammed, Groppa Stanislav, Karashova Blagovesta Marinova, Di Rosa Gabriella, Goraya Jatinder S., Sultan Tipu, Avdjieva Daniela, Kathom Hadil, Tincheva Radka, Banu Selina, Veggiotti Pierangelo, Verrotti Alberto, Savasta Salvatore, Ruiz Alfons Macaya, Garavaglia Barbara, Borgione Eugenia, Papacostas Savvas, Compagnoni Chiara, Piccirilli Alessandra, Vikelis Michail, Chelban Viorica, Kaiyrzhanov Rauan, Cortese Andrea, Sullivan Roisin, Papanicolaou Eleni Zamba, Dardiotis Efthymios, Maqbool Shazia, Ibrahim Shahnaz, Kirmani Salman, Rana Nuzhat Noureen, Atawneh Osama, Lim Shen-Yang, Shaikh Farooq, Scardamaglia Annarita, Koutsis George, Mangano Salvatore, Scuderi Carmela, Borgione Eugenia, Morello Giovanna, Zollo Massimo, Heimer Gali, Striano Pasquale, Al-Khawaja Issam, Al-Mutairi Fuad, Alkuraya Fowzan S., Rizig Mie, Shashkin Chingiz, Zharkynbekova Nazira, Koneyev Kairgali, Manizha Ganieva, Isrofilov Maksud, Guliyeva Ulviyya, Salayev Kamran, Khachatryan Samson, Xiromerisiou Georgia, Spanaki Cleanthe, Tucci Arianna, Fiorillo Chiara, Rissotto Federico, Munell Francina, Gagliano Antonella, Jan Farida, Chimenz Roberto, Gitto Eloisa, Cuppari Caterina, Romeo Carmelo, Magrinelli Francesca, Gupta Neerja, Kabra Madhulika, Benrhouma Hanene, Tazir Meriem, Zagaroli Luca, Caloisi Claudia, Fabiano Cecilia, Bottone Gabriella, Farello Giovanni, Di Fabio Sandra, Obeid Makram, Bakhtadze Sophia, Saadi Nebal W., Zaki Maha S., Triki Chahnez C., Kara Majdi, Belcastro Vincenzo, Specchio Nicola, Karimiani Ehsan G., Salih Ahmed M., Ramenghi Luca A., David Emanuele, Curró Riccardo, Iezzi Maria Laura, Iapadre Giulia, Nanni Giuliana, Scorrano Giovanna, Fiorile Maria F., Brancati Francesco, Di Falco Giovanna, Mandarà Luana, Barrano Giuseppe, Elia Maurizio, Terrone Gaetano, Operto Francesca F., Valenzise Mariella, Della Rocca Ylenia, Zazzeroni Francesca, Alesse Edoardo, Manti Filippo, Galosi Serena, Nardecchia Francesca, Leuzzi Vincenzo, Pironti Erica, Amore Greta, Ceravolo Giorgia, Zafar Faisal, Ullah Ehsan, Afzal Erum, Javed Iram, Rahman Fatima, Ahmed Muhammad Mehboob, Parisi Pasquale, Borgia Paola, Mangano Giuseppe D., Chiarelli Francesco, Genomics Queen Square
Subject
Genetics (clinical)
Cited by
2 articles.
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