Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications von Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren C., Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan E., Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M. Natalia, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia V., Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair T., Pennavaria, Ajia, Krogstad, Liv S., Bekkelund, Åse K., Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten M., Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra Hiz, Lochmuller, Hanns, Da’as, Sahar I., Fakhro, Khalid A., Gómez-Pascual, Alicia, Botía, Juan A., Wood, Nicholas W., Horvath, Rita, Ernst, Andreas M., Rothman, James E., McEntagart, Meriel, Crow, Yanick J., Alkuraya, Fowzan S., Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

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

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Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome von Shaheen, Ranad, Faqeih, Eissa, Sunker, Asma, Morsy, Heba, Al-Sheddi, Tarfa, Shamseldin, Hanan E., Adly, Nouran, Hashem, Mais, Alkuraya, Fowzan S.

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Polymorphisms of base-excision repair genes and the hepatocarcinogenesis von Mattar, Manar-Aleslam M., Zekri, Abdel-Rahman N., Hussein, Nehal, Morsy, Heba, Esmat, Gamal, Amin, Magdy A.

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CYP1B1 and myocilin gene mutations in Egyptian patients with primary congenital glaucoma von Fassad, Mahmoud R., Amin, Asmaa K., Morsy, Heba A., Issa, Noha M., Bayoumi, Nader H., El Shafei, Sahar A., Kholeif, Soha F.

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Serum levels of β-catenin as a potential marker for genotype 4/ hepatitis C-associated hepatocellular carcinoma von ZEKRI, Abdel-Rahman N, BAHNASSY, Abeer A, EL-DIN, Hanaa M. Alam, MORSY, Heba M, SHAARAWY, Sabry, MOHARRAM, Nagia Z, DAOUD, Sayed S

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IL28B rs12979860 Gene Polymorphism in Egyptian Patients with Chronic Liver Disease Infected with HCV von Zekri, Abdel-Rahman N., Salama, Hosny, Medhat, Eman, Bahnassy, Abeer A., Morsy, Heba M., Lotfy, Mai M., Ahmed, Rasha, Darwish, Tarneem, Marei, Mohamad S.

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The Effect of Fluoxetine and Ibuprofen on BCG-Induced Alteration in Pain Sensitivity in Mice von El-Morsy, Heba H, El-Bakly, Wesam, Hasanin, Amany H, Hamza, May, Abdel-Bary, M

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Introducing The International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD) von Macken, William, Vandrovcova, Jana, Wilson, Lindsay, Morsy, Heba, Record, Christopher, Pitceathly, Robert, Houlden, Henry, Reilly, Mary, Hanna, Michael

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The Comparative Effect of Nisin and Thioridazine as Potential Anticancer Agents on Hepatocellular Carcinoma von El-Sayed Ibrahim, Noha, Morsy, Heba, Abdelgwad, Marwa

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De novo variants in KCNA3 cause developmental and epileptic encephalopathy von Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Syrbe, Steffen, Taglialatela, Maurizio, Lemke, Johannes R

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Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome von Latour, Brooke L., Van de Weghe, Julie C., Rusterholz, Tamara D. S., Letteboer, Stef J. F., Gomez, Arianna, Shaheen, Ranad, Gesemann, Matthias, Karamzade, Arezou, Asadollahi, Mostafa, Barroso-Gil, Miguel, Chitre, Manali, Grout, Megan E., van Reeuwijk, Jeroen, van Beersum, Sylvia E. C., Miller, Caitlin, Dempsey, Jennifer C., Morsy, Heba, Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephan C. F., Boldt, Karsten, Ueffing, Marius, Keramatipour, Mohammad, Sayer, John A., Alkuraya, Fowzan S., Bachmann-Gagescu, Ruxandra, Roepman, Ronald, Doherty, Dan

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De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity von Benkirane, Mehdi, Bonhomme, Marion, Morsy, Heba, Safgren, Stephanie L, Marelli, Cecilia, Chaussenot, Annabelle, Smedley, Damian, Cipriani, Valentina, de Sainte-Agathe, Jean-Madeleine, Ding, Can, Larrieu, Lise, Vestito, Letizia, Margot, Henri, Lesca, Gaetan, Ramond, Francis, Castrioto, Anna, Baux, David, Verheijen, Jan, Sansa, Emna, Giunti, Paola, Haetty, Aline, Bergougnoux, Anne, Pointaux, Morgane, Ardouin, Olivier, van Goethem, Charles, Vincent, Marie-Claire, Hadjivassiliou, Marios, Cossée, Mireille, Rouaud, Tiphaine, Bartsch, Oliver, Freeman, William D, Wierenga, Klaas J, Klee, Eric W, Vandrovcova, Jana, Houlden, Henry, Debant, Anne, Koenig, Michel

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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia von Fassad, Mahmoud R., Shoman, Walaa I., Morsy, Heba, Patel, Mitali P., Radwan, Nesrine, Jenkins, Lucy, Cullup, Thomas, Fouda, Eman, Mitchison, Hannah M., Fasseeh, Nader

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Significance of cancer testis-associated antigens von El-Attar, Eman, Ramadan, Ragaa, Samir, Mohamed, Morsy, Heba, Shamseya, Mohamed, Shalaby, Maha

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LGR5, HES1 and ATOH1 in Young Rectal Cancer Patients in Egyptian von Morsy, Heba, Gaballah, Ahmed, Samir, Mohamed, Nakundi, Vandrome, Shamseya, Mohamed, Mahrous, Hanan, Ghazal, Abeer, Hashish, Mervat, Arafat, Waleed

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A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity von Nabil, Amira, El Shafei, Sahar, El Shakankiri, Nihal M., Habib, Ahmed, Morsy, Heba, Maddirevula, Sateesh, Alkuraya, Fowzan S.

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Neuromuscular disease genetics in under-represented populations: increasing data diversity von Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Jr, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G

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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications von Rosenhahn, Erik, O’Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowzan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E.I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M.H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E.X., Maroofian, Reza, Platzer, Konrad

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Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome von Kalay, Ersan, Sezgin, Orhan, Chellappa, Vasant, Mutlu, Mehmet, Morsy, Heba, Kayserili, Hulya, Kreiger, Elmar, Cansu, Aysegul, Toraman, Bayram, Abdalla, Ebtesam Mohammed, Aslan, Yakup, Pillai, Shiv, Akarsu, Nurten A.

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