Immune dysregulation caused by homozygous mutations in CBLB
Janssen, Erin, Peters, Zachary, Alosaimi, Mohammed F, Smith, Emma, Milin, Elena, Stafstrom, Kelsey, Wallace, Jacqueline G, Platt, Craig D, Chou, Janet, Ansari, Yasmeen S. El, Farsi, Tariq Al, Ameziane, Najim, Al-Ali, Ruslan, Calvo, Maria, Rocha, Maria Eugenia, Bauer, Peter, Al-Sannaa, Nouriya Abbas, Sukaiti, Nashat Faud Al, Alangari, Abdullah A, Bertoli-Avella, Aida M, Geha, Raif S
Published in The Journal of clinical investigation (15.10.2022)
Published in The Journal of clinical investigation (15.10.2022)
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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
Medico Salsench, Eva, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Pérez, Belén, Sánchez-Lijarcio, Obdulia, Ibáñez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Abbas Al-Sannaa, Nouriya, Girgis, Marian Y, Silveira, Tainá Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Najarzadeh Torbati, Paria, Ghayoor Karimiani, Ehsan, Murphy, David, Cali, Elisa, Kaya, Ibrahim H, AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londoño, Kelly J, Arold, Stefan T, Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan
Published in Brain (London, England : 1878) (29.11.2021)
Published in Brain (London, England : 1878) (29.11.2021)
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The clinical and genetic Spectrum of Maroteaux-Lamy syndrome (Mucopolysaccharidosis VI) in the Eastern Province of Saudi Arabia
Al-Sannaa, Nouriya Abbas, Al-Abdulwahed, Hind Yousif, Al-Majed, Sami Ibrahim, Bouholaigah, Issam Hassan
Published in Journal of community genetics (01.01.2018)
Published in Journal of community genetics (01.01.2018)
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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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