Two Decades after Mandibuloacral Dysplasia Discovery: Additional Cases and Comprehensive View of Disease Characteristics

por Jéru, Isabelle, Nabil, Amira, El-Makkawy, Gehad, Lascols, Olivier, Vigouroux, Corinne, Abdalla, Ebtesam
Publicado 2021

Genomics in Egypt: Current Status and Future Aspects

por El-Attar, Eman Ahmed, Helmy Elkaffas, Rasha Mohamed, Aglan, Sarah Ahmed, Naga, Iman S., Nabil, Amira, Abdallah, Hoda Y.
Publicado 2022

Genetic analysis of CFH and MCP in Egyptian patients with immune-complex proliferative glomerulonephritis

por Gouda, Heba R., Talaat, Iman M., Bouzid, Amal, El-Assi, Hoda, Nabil, Amira, Venkatachalam, Thenmozhi, Manasa Bhamidimarri, Poorna, Wohlers, Inken, Mahdami, Amena, EL-Gendi, Saba, ElKoraie, Ahmed, Busch, Hauke, Saber-Ayad, Maha, Hamoudi, Rifat, Baddour, Nahed
Publicado 2022

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

por Chatron, Nicolas, Becker, Felicitas, Morsy, Heba, Schmidts, Miriam, Hardies, Katia, Tuysuz, Beyhan, Roselli, Sandra, Najafi, Maryam, Alkaya, Dilek Uludag, Ashrafzadeh, Farah, Nabil, Amira, Omar, Tarek, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Hussien, Haytham, Kok, Fernando, Ramos, Luiza, Gunes, Nilay, Bilguvar, Kaya, Labalme, Audrey, Alix, Eudeline, Sanlaville, Damien, de Bellescize, Julitta, Poulat, Anne-Lise, Moslemi, Ali-Reza, Lerche, Holger, May, Patrick, Lesca, Gaetan, Weckhuysen, Sarah, Tajsharghi, Homa
Publicado 2020

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

por Lesmann, Hellen, Lyon, Gholson J., Caro, Pilar, Abdelrazek, Ibrahim M., Moosa, Shahida, Pantel, Jean Tori, Hagen, Merle ten, Rosnev, Stanislav, Kamphans, Tom, Meiswinkel, Wolfgang, Li, Jing-Mei, Klinkhammer, Hannah, Hustinx, Alexander, Javanmardi, Behnam, Knaus, Alexej, Uwineza, Annette, Knopp, Cordula, Marchi, Elaine, Elbracht, Miriam, Mattern, Larissa, Jamra, Rami Abou, Velmans, Clara, Strehlow, Vincent, Nabil, Amira, Graziano, Claudio, Artem, Borovikov, Schnabel, Franziska, Heuft, Lara, Herrmann, Vera, Höller, Matthias, Alaaeldin, Khoshoua, Jezela-Stanek, Aleksandra, Mohamed, Amal, Lasa-Aranzasti, Amaia, Elmakkawy, Gehad, Safwat, Sylvia, Ebstein, Frédéric, Küry, Sébastien, Arlt, Annabelle, Marbach, Felix, Netzer, Christian, Kaptain, Sophia, Weiland, Hannah, Devriendt, Koen, Gripp, Karen W., Mücke, Martin, Verloes, Alain, Schaaf, Christian P., Nellåker, Christoffer, Solomon, Benjamin D., Waikel, Rebekah, Abdalla, Ebtesam, Nöthen, Markus M., Krawitz, Peter M., Hsieh, Tzung-Chien
Publicado 2023