ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype von Mahmoud, Iman G., Elmonem, Mohamed A., Zaki, Maha S., Ramadan, Areef, Al‐Menabawy, Nihal M., El‐Gamal, Aya, Mansour, Lobna, Issa, Mahmoud Y., Abdel‐Hamid, Mohamed S., Abdel‐Hady, Sawsan, Khalifa, Iman, Ibrahim, Ahmed, Solyom, Alexander, Rolfs, Arndt, Selim, Laila

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Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations von Mahmoud, Iman G., Elmonem, Mohamed A., Elkhateeb, Nour M., Elnaggar, Walaa, Sobhi, Ahmed, Girgis, Marian Y., Kamel, Mona, Shaheen, Yara, Samaha, Mona, Ramadan, Areef, Zaki, Maha S., El‐Hawary, Bahaa, Hassan, Sawsan A., Khalifa, Iman A., Mossad, Fawzya, Al‐Menabawy, Nihal M., Zielke, Susanne, Gleeson, Joseph G., Rolfs, Arndt, Selim, Laila A.

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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder von Zaki, Maha S., Issa, Mahmoud Y., Thomas, Manal M., Elbendary, Hasnaa M., Rafat, Karima, Al Menabawy, Nihal M., Selim, Laila A., Ismail, Samira, Abdel-Salam, Ghada M., Gleeson, Joseph G.

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Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome von Cozma, Claudia, Hovakimyan, Marina, Iurașcu, Marius-Ionuț, Makhseed, Nawal, Selim, Laila A, Alhashem, Amal M, Ben-Omran, Tawfeg, Mahmoud, Iman G, Al Menabawy, Nihal M, Al-Mureikhi, Mariam, Martin, Magi, Demuth, Laura, Yüksel, Zafer, Beetz, Christian, Bauer, Peter, Rolfs, Arndt

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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder von Dias, Caroline M., Punetha, Jaya, Zheng, Céline, Mazaheri, Neda, Rad, Abolfazl, Efthymiou, Stephanie, Petersen, Andrea, Dehghani, Mohammadreza, Pehlivan, Davut, Partlow, Jennifer N., Posey, Jennifer E., Salpietro, Vincenzo, Gezdirici, Alper, Malamiri, Reza Azizi, Al Menabawy, Nihal M., Selim, Laila A., Vahidi Mehrjardi, Mohammad Yahya, Banu, Selina, Polla, Daniel L., Yang, Edward, Rezazadeh Varaghchi, Jamileh, Mitani, Tadahiro, van Beusekom, Ellen, Najafi, Maryam, Sedaghat, Alireza, Keller-Ramey, Jennifer, Durham, Leslie, Coban-Akdemir, Zeynep, Karaca, Ender, Orlova, Valeria, Schaeken, Lieke L.M., Sherafat, Amir, Jhangiani, Shalini N., Stanley, Valentina, Shariati, Gholamreza, Galehdari, Hamid, Gleeson, Joseph G., Walsh, Christopher A., Lupski, James R., Seiradake, Elena, Houlden, Henry, van Bokhoven, Hans, Maroofian, Reza

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Niemann-Pick disease type C: a diagnostic challenge von Al Menabawy, Nihal M, Mahmoud, Iman G, EL Khateeb, Nour M, Sobhy, Ahmed M, Zaki, Maha S, Gleeson, Joseph, Rolfs, Arndt, Selim, Laila A

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