Outcomes of cases with elevated 3-hydroxyisovaleryl carnitine report from the newborn screening program

Autor: Al Mutairi, Fuad, Alkhalaf, Randa, Khan, Abdul Rafiq, Al Othaim, Ali, Alfadhel, Majid

Publikováno v: In Molecular Genetics and Metabolism Reports December 2024 41

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia

Autor: Kentab, Amal, Muddathir, H.H., Salih, M.A., Mushiba, Aziza M., Zada, A.P., Bamajboor, Mohammed S., Zameer, Sadique, AlBassam, Fahad, Mahmoud, Adel, Alnawfal, A.A., AlAmr, Mushari, Bawazir, Maryam, Al Rumayyan, Ahmed, Al-Twaijri, Waleed, Alrifai, Muhammed Talal, Al Hajjaj, Sumayah, Saleh, Mohammed M., Hamhom, Abdulrahim M., Al-Otaibi, Ali, AlGhamdi, Malak, Housawi, Yousef, Aljadhai, Yaser I., Alameer, Seham, Almannai, Mohammed, Jad, Lamyaa A., Alwadei, Ali H., Tabassum, Sadia, Alsaman, Abdulaziz, AlAsmari, Ali, Al Mutairi, Fuad, Althiyab, Hamad, Bashiri, Fahad A., AlHumaidi, Suzan, Alfadhel, Majid, Mink, Jonathan W., AlHashim, Aqeela, Faqeih, Eissa A.

Publikováno v: In Pediatric Neurology June 2024 155:149-155

Expanding the phenotype of PPP1R21‐related neurodevelopmental disorder.

Autor: Almannai, Mohammed, Marafi, Dana, Zaki, Maha S., Maroofian, Reza, Efthymiou, Stephanie, Saadi, Nebal Waill, Filimban, Bilal, Dafsari, Hormos Salimi, Rahman, Fatima, Maqbool, Shazia, Faqeih, Eissa, Al Mutairi, Fuad, Alsharhan, Hind, Abdelaty, Omar, Bin‐Hasan, Saadoun, Duan, Ruizhi, Noureldeen, Mahmoud M., Alqattan, Alaa, Houlden, Henry, Hunter, Jill V.

Publikováno v: Clinical Genetics; Jun2024, Vol. 105 Issue 6, p620-629, 10p

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Autor: Hannah, Michael G., Bugiardini, Enrico, Bertini, Enrico, Kriouile, Yamna, El-Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta M., Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Lanari, Marcello, Savasta, Salvatore, Macaya, Alfons, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat N., Atawneh, Osama, Lim, Shen-Yang, Zuccotti, Gian V., Marseglia, Gian L., Esposito, Susanna, Shaikh, Farooq, Cogo, Paola, Corsello, Giovanni, Mangano, Salvatore, Nardello, Rosaria, Mangano, Donato, Scardamaglia, Annarita, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Morello, Giovanna, Zollo, Massimo, Berni-Canani, Roberto, Terracciano, Luigi M., Sisto, Antonio, Di Fabio, Sandra, Strano, Federica, Scorrano, Giovanna, Di Bella, Saverio, Di Francesco, Ludovica, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Fiorillo, Chiara, Iacomino, Michele, Gaudio, Eugenio, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Iughetti, Lorenzo, Di Rosa, Gabriella, Maghnie, Mohamad, Pettoello-Mantovani, Massimo, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Bottone, Gabriella, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Miraglia-Del-Giudice, Michele, Maccarone, Rita, Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., Seri, Marco, Di-Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elisa, Maurizio, Cherubini, Enrico, Operto, Francesca F., Valenzise, Mariella, Cattaneo, Antonino, Zazzeroni, Francesca, Alesse, Edoardo, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, Ahmed, Muhammad M., Parisi, Pasquale, Spalice, Alberto, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Lamaze, Angelique, Aughey, Gabriel N., Al Mutairi, Fuad, Rad, Aboulfazl, Rocca, Clarissa, Calì, Elisa, Accogli, Andrea, Zara, Federico, Striano, Pasquale, Mojarrad, Majid, Tariq, Huma, Giacopuzzi, Edoardo, Taylor, Jenny C., Oprea, Gabriela, Skrahina, Volha, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, Bassiony, Mahmoud, El Said, Huda G., Abdel-Hamid, Mohamed S., Al Shalan, Maha, Seo, Gohun, Kim, Sohyun, Lee, Hane, Khang, Rin, Issa, Mahmoud Y., Elbendary, Hasnaa M., Rafat, Karima, Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Eslahi, Atieh, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Babaei, Meisam, Jackson, Adam, Bertoli-Avella, Aida, Pagnamenta, Alistair T., Niceta, Marcello, Battini, Roberta, Corsello, Antonio, Leoni, Chiara, Chiarelli, Francesco, Dallapiccola, Bruno, Faqeih, Eissa Ali, Tallur, Krishnaraya K., Alfadhel, Majid, Alobeid, Eman, Maddirevula, Sateesh, Mankad, Kshitij, Banka, Siddharth, Ghayoor-Karimiani, Ehsan, Tartaglia, Marco, Chung, Wendy K., Green, Rachel, Jepson, James E.C., Houlden, Henry

Publikováno v: In The American Journal of Human Genetics 4 January 2024 111(1):200-210