Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB

por AbdelAleem, Alice, Haddad, Naim, Al-Ettribi, Ghada, Crunk, Amy, Elsotouhy, Ahmed
Publicado 2023

Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

por Ibrahim, Doaa M. A., Ali, Ola S. M., Nasr, Hala, Fateen, Ekram, AbdelAleem, Alice
Publicado 2023

NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

por Elsaid, Mahmoud F., Ibrahim, Khalid, Chalhoub, Nader, Elsotouhy, Ahmed, El Mudehki, Noora, Abdel Aleem, Alice
Publicado 2017

Osteogenic enhancement of modular ceramic nanocomposites impregnated with human dental pulp stem cells: an approach for bone repair and regenerative medicine

por Mohammed, Eman E. A., Beherei, Hanan H., El-Zawahry, Mohamed, Farrag, Abdel Razik H., Kholoussi, Naglaa, Helwa, Iman, Mabrouk, Mostafa, Abdel Aleem, Alice K.
Publicado 2022

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

por Wolujewicz, Paul, Aguiar-Pulido, Vanessa, AbdelAleem, Alice, Nair, Vidya, Thareja, Gaurav, Suhre, Karsten, Shaw, Gary M., Finnell, Richard H., Elemento, Olivier, Ross, M. Elizabeth
Publicado 2021

Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns

por Olthof, Anouk M, White, Alisa K, Mieruszynski, Stephen, Doggett, Karen, Lee, Madisen F, Chakroun, Almahdi, Abdel Aleem, Alice K, Rousseau, Justine, Magnani, Cinzia, Roifman, Chaim M, Campeau, Philippe M, Heath, Joan K, Kanadia, Rahul N
Publicado 2021

Systems biology analysis of human genomes points to key pathways conferring spina bifida risk

por Aguiar-Pulido, Vanessa, Wolujewicz, Paul, Martinez-Fundichely, Alexander, Elhaik, Eran, Thareja, Gaurav, Abdel Aleem, Alice, Chalhoub, Nader, Cuykendall, Tawny, Al-Zamer, Jamel, Lei, Yunping, El-Bashir, Haitham, Musser, James M., Al-Kaabi, Abdulla, Shaw, Gary M., Khurana, Ekta, Suhre, Karsten, Mason, Christopher E., Elemento, Olivier, Finnell, Richard H., Ross, M. Elizabeth
Publicado 2021

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

por Bielas, Stephanie L., Silhavy, Jennifer L., Brancati, Francesco, Kisseleva, Marina V., Al-Gazali, Lihadh, Sztriha, Laszlo, Bayoumi, Riad A., Zaki, Maha S., Abdel-Aleem, Alice, Rosti, Ozgur, Kayserili, Hulya, Swistun, Dominika, Scott, Lesley C., Bertini, Enrico, Boltshauser, Eugen, Fazzi, Elisa, Travaglini, Lorena, Field, Seth J., Gayral, Stephanie, Jacoby, Monique, Schurmans, Stephane, Dallapiccola, Bruno, Majerus, Philip W., Valente, Enza Maria, Gleeson, Joseph G.
Publicado 2009