Resolution of five-component mixture using mean centering ratio and inverse least squares chemometrics

Por Issa, Mahmoud Mohamed, Nejem, R’afat Mahmoud, Shanab, Alaa Mohamed Abu, Shaat, Nahed Talab
Publicado em 2013

New Chemometrics Mode Based on Adjacent Data Points’ Differences for the Simultaneous Determination of Clopidogrel, Atorvastatin, and Aspirin in their Combined Ternary Drug Formula...

Por Nejem, R’afat Mahmoud, Issa, Mahmoud Mohamed, Shanab, Alaa Abu, Stefan-Van Staden, Raluca-Ioana, Aboul-Enein, Hassan Y.
Publicado no Sci Pharm (2014)

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

Por Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.
Publicado no Hum Genomics (2016)

New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect

Por Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G
Publicado em 2011

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Por Zaki, Maha S., Selim, Laila, EL-Bassyouni, Hala T., Issa, Mahmoud Y., Mahmoud, Iman, Ismail, Samira, Girgis, Mariane, Sadek, Abdelrahim A., Gleeson, Joseph G., Abdel Hamid, Mohamed S.
Publicado no Eur J Paediatr Neurol (2016)

PYCR2 mutations cause a lethal syndrome of microcephaly and failure to thrive

Por Zaki, Maha S., Bhat, Gifty, Sultan, Tipu, Issa, Mahmoud, Jung, Hea-Jin, Dikoglu, Esra, Selim, Laila, Gamal, Imam, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada, Marin-Valencia, Isaac, Gleeson, Joseph G.
Publicado no Ann Neurol (2016)

A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features

Por Marin-Valencia, Isaac, Novarino, Gaia, Johansen, Anide, Rosti, Basak, Issa, Mahmoud Y, Musaev, Damir, Bhat, Gifty, Scott, Eric, Silhavy, Jennifer L, Stanley, Valentina, Rosti, Rasim O, Gleeson, Jeremy W, Imam, Farhad B, Zaki, Maha S, Gleeson, Joseph G
Publicado no J Med Genet (2017)

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Por Marin-Valencia, Isaac, Gerondopoulos, Andreas, Zaki, Maha S., Ben-Omran, Tawfeg, Almureikhi, Mariam, Demir, Ercan, Guemez-Gamboa, Alicia, Gregor, Anne, Issa, Mahmoud Y., Appelhof, Bart, Roosing, Susanne, Musaev, Damir, Rosti, Basak, Wirth, Sara, Stanley, Valentina, Baas, Frank, Barr, Francis A., Gleeson, Joseph G.
Publicado no Am J Hum Genet (2017)

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

Por Makrythanasis, Periklis, Kato, Mitsuhiro, Zaki, Maha S., Saitsu, Hirotomo, Nakamura, Kazuyuki, Santoni, Federico A., Miyatake, Satoko, Nakashima, Mitsuko, Issa, Mahmoud Y., Guipponi, Michel, Letourneau, Audrey, Logan, Clare V., Roberts, Nicola, Parry, David A., Johnson, Colin A., Matsumoto, Naomichi, Hamamy, Hanan, Sheridan, Eamonn, Kinoshita, Taroh, Antonarakis, Stylianos E., Murakami, Yoshiko
Publicado no Am J Hum Genet (2016)

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Por De Mori, Roberta, Romani, Marta, D’Arrigo, Stefano, Zaki, Maha S., Lorefice, Elisa, Tardivo, Silvia, Biagini, Tommaso, Stanley, Valentina, Musaev, Damir, Fluss, Joel, Micalizzi, Alessia, Nuovo, Sara, Illi, Barbara, Chiapparini, Luisa, Di Marcotullio, Lucia, Issa, Mahmoud Y., Anello, Danila, Casella, Antonella, Ginevrino, Monia, Leggins, Autumn Sa’na, Roosing, Susanne, Alfonsi, Romina, Rosati, Jessica, Schot, Rachel, Mancini, Grazia Maria Simonetta, Bertini, Enrico, Dobyns, William B., Mazza, Tommaso, Gleeson, Joseph G., Valente, Enza Maria
Publicado no Am J Hum Genet (2017)

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Por Friedman, Jennifer, Smith, Desiree E., Issa, Mahmoud Y., Stanley, Valentina, Wang, Rengang, Mendes, Marisa I., Wright, Meredith S., Wigby, Kristen, Hildreth, Amber, Crawford, John R., Koehler, Alanna E., Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N., Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T., Omar, Tarek E. I., Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F., Salomons, Gajja S., Zaki, Maha S., Bernard, Geneviève, Gleeson, Joseph G.
Publicado no Nat Commun (2019)

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

Por Estañ, María Cristina, Fernández-Núñez, Elisa, Zaki, Maha S., Esteban, María Isabel, Donkervoort, Sandra, Hawkins, Cynthia, Caparros-Martin, José A., Saade, Dimah, Hu, Ying, Bolduc, Véronique, Chao, Katherine Ru-Yui, Nevado, Julián, Lamuedra, Ana, Largo, Raquel, Herrero-Beaumont, Gabriel, Regadera, Javier, Hernandez-Chico, Concepción, Tizzano, Eduardo F., Martinez-Glez, Victor, Carvajal, Jaime J., Zong, Ruiting, Nelson, David L., Otaify, Ghada A., Temtamy, Samia, Aglan, Mona, Issa, Mahmoud, Bönnemann, Carsten G., Lapunzina, Pablo, Yoon, Grace, Ruiz-Perez, Victor L.
Publicado no Nat Commun (2019)

Loss of protocadherin-12 leads to Diencephalic-Mesencephalic Junction Dysplasia syndrome

Por Guemez-Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha, Saleem, Sahar N., Musaev, Damir, McEvoy-Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson-Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Gali, Heimer, Pillar, Nir, Shomron, Noam, Weissglas-Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben-Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.
Publicado no Ann Neurol (2018)

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

Por van Karnebeek, Clara D.M., Ramos, Rúben J., Wen, Xiao-Yan, Tarailo-Graovac, Maja, Gleeson, Joseph G., Skrypnyk, Cristina, Brand-Arzamendi, Koroboshka, Karbassi, Farhad, Issa, Mahmoud Y., van der Lee, Robin, Drögemöller, Britt I., Koster, Janet, Rousseau, Justine, Campeau, Philippe M., Wang, Youdong, Cao, Feng, Li, Meng, Ruiter, Jos, Ciapaite, Jolita, Kluijtmans, Leo A.J., Willemsen, Michel A.A.P., Jans, Judith J., Ross, Colin J., Wintjes, Liesbeth T., Rodenburg, Richard J., Huigen, Marleen C.D.G., Jia, Zhengping, Waterham, Hans R., Wasserman, Wyeth W., Wanders, Ronald J.A., Verhoeven-Duif, Nanda M., Zaki, Maha S., Wevers, Ron A.
Publicado no Am J Hum Genet (2019)

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features

Por Santiago-Sim, Teresa, Burrage, Lindsay C., Ebstein, Frédéric, Tokita, Mari J., Miller, Marcus, Bi, Weimin, Braxton, Alicia A., Rosenfeld, Jill A., Shahrour, Maher, Lehmann, Andrea, Cogné, Benjamin, Küry, Sébastien, Besnard, Thomas, Isidor, Bertrand, Bézieau, Stéphane, Hazart, Isabelle, Nagakura, Honey, Immken, LaDonna L., Littlejohn, Rebecca O., Roeder, Elizabeth, Kara, Bulent, Hardies, Katia, Weckhuysen, Sarah, May, Patrick, Lemke, Johannes R., Elpeleg, Orly, Abu-Libdeh, Bassam, James, Kiely N., Silhavy, Jennifer L., Issa, Mahmoud Y., Zaki, Maha S., Gleeson, Joseph G., Seavitt, John R., Dickinson, Mary E., Ljungberg, M. Cecilia, Wells, Sara, Johnson, Sara J., Teboul, Lydia, Eng, Christine M., Yang, Yaping, Kloetzel, Peter-Michael, Heaney, Jason D., Walkiewicz, Magdalena A.
Publicado no Am J Hum Genet (2017)

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Por Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Aqeel, Aida I. Al, Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar
Publicado no Hum Genet (2018)

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Por Novarino, Gaia, Fenstermaker, Ali G., Zaki, Maha S., Hofree, Matan, Silhavy, Jennifer L., Heiberg, Andrew D., Abdellateef, Mostafa, Rosti, Basak, Scott, Eric, Mansour, Lobna, Masri, Amira, Kayserili, Hulya, Al-Aama, Jumana Y., Abdel-Salam, Ghada M. H., Karminejad, Ariana, Kara, Majdi, Kara, Bulent, Bozorgmehri, Bita, Ben-Omran, Tawfeg, Mojahedi, Faezeh, El Din Mahmoud, Iman Gamal, Bouslam, Naima, Bouhouche, Ahmed, Benomar, Ali, Hanein, Sylvain, Raymond, Laure, Forlani, Sylvie, Mascaro, Massimo, Selim, Laila, Shehata, Nabil, Al-Allawi, Nasir, Bindu, P.S., Azam, Matloob, Gunel, Murat, Caglayan, Ahmet, Bilguvar, Kaya, Tolun, Aslihan, Issa, Mahmoud Y., Schroth, Jana, Spencer, Emily G., Rosti, Rasim O., Akizu, Naiara, Vaux, Keith K., Johansen, Anide, Koh, Alice A., Megahed, Hisham, Durr, Alexandra, Brice, Alexis, Stevanin, Giovanni, Gabriel, Stacy B., Ideker, Trey, Gleeson, Joseph G.
Publicado em 2014

Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration

Por Shashi, Vandana, Magiera, Maria M, Klein, Dennis, Zaki, Maha, Schoch, Kelly, Rudnik‐Schöneborn, Sabine, Norman, Andrew, Lopes Abath Neto, Osorio, Dusl, Marina, Yuan, Xidi, Bartesaghi, Luca, De Marco, Patrizia, Alfares, Ahmed A, Marom, Ronit, Arold, Stefan T, Guzmán‐Vega, Francisco J, Pena, Loren DM, Smith, Edward C, Steinlin, Maja, Babiker, Mohamed OE, Mohassel, Payam, Foley, A Reghan, Donkervoort, Sandra, Kaur, Rupleen, Ghosh, Partha S, Stanley, Valentina, Musaev, Damir, Nava, Caroline, Mignot, Cyril, Keren, Boris, Scala, Marcello, Tassano, Elisa, Picco, Paolo, Doneda, Paola, Fiorillo, Chiara, Issa, Mahmoud Y, Alassiri, Ali, Alahmad, Ahmed, Gerard, Amanda, Liu, Pengfei, Yang, Yaping, Ertl‐Wagner, Birgit, Kranz, Peter G, Wentzensen, Ingrid M, Stucka, Rolf, Stong, Nicholas, Allen, Andrew S, Goldstein, David B, Schoser, Benedikt, Rösler, Kai M, Alfadhel, Majid, Capra, Valeria, Chrast, Roman, Strom, Tim M, Kamsteeg, Erik‐Jan, Bönnemann, Carsten G, Gleeson, Joseph G, Martini, Rudolf, Janke, Carsten, Senderek, Jan
Publicado no EMBO J (2018)