Canlyniadau Chwilio - Issa, Mahmoud

Resolution of five-component mixture using mean centering ratio and inverse least squares chemometrics gan Issa, Mahmoud Mohamed, Nejem, R’afat Mahmoud, Shanab, Alaa Mohamed Abu, Shaat, Nahed Talab

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Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients gan Sharaf-Eldin, Wessam E., Issa, Mahmoud Y., Zaki, Maha S., Kilany, Ayman, Fayez, Alaaeldin G.

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New Chemometrics Mode Based on Adjacent Data Points’ Differences for the Simultaneous Determination of Clopidogrel, Atorvastatin, and Aspirin in their Combined Ternary Drug Formula... gan Nejem, R’afat Mahmoud, Issa, Mahmoud Mohamed, Shanab, Alaa Abu, Stefan-Van Staden, Raluca-Ioana, Aboul-Enein, Hassan Y.

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Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree gan Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico A., Zaki, Maha, Issa, Mahmoud Y., Ansar, Muhammad, Hamamy, Hanan, Antonarakis, Stylianos E.

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Survival of polymeric microstructures subjected to interrogatory touch gan Finn, Mickey, Treiber, Jeremy, Issa, Mahmoud, Martens, Christian J., Feeney, Colin P., Ngwa, Lehna, Dhong, Charles, Lipomi, Darren J.

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Acute respiratory distress syndrome after in-hospital cardiac arrest gan Shih, Jenny A., Robertson, Hannah K., Issa, Mahmoud S., Grossestreuer, Anne V., Donnino, Michael W., Berg, Katherine M., Moskowitz, Ari

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Lactate and hypotension as predictors of mortality after in-hospital cardiac arrest gan Issa, Mahmoud S., Grossestreuer, Anne V., Patel, Het, Ntshinga, Lethu, Coker, Amin, Yankama, Tuyen, Donnino, Michael W., Berg, Katherine M.

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New Recessive Syndrome of Microcephaly, Cerebellar Hypoplasia, and Congenital Heart Conduction Defect gan Zaki, Maha S, Salam, Ghada M H Abdel, Saleem, Sahar N, Dobyns, William B, Issa, Mahmoud Y, Sattar, Shifteh, Gleeson, Joseph G

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

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Thiamine Supplementation in Patients with Alcohol Use Disorder presenting with Acute Critical Illness--a Nationwide Retrospective Observational Study gan Pawar, Rahul D, Balaji, Lakshman, Grossestreuer, Anne V, Thompson, Garrett, Holmberg, Mathias J, Issa, Mahmoud S, Patel, Parth V, Kronen, Ryan, Berg, Katherine M, Moskowitz, Ari, Donnino, Michael W

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

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A Trigger and Response System for Preventing Cardiac Arrest in the ICU gan Moskowitz, Ari, Berg, Katherine M., Cocchi, Michael N., Grossestreuer, Anne V., Issa, Mahmoud, Balaji, Lakshman, Chase, Maureen, Yang, Jesse X., Sarge, Jennifer, O’Donoghue, Sharon, Sarge, Todd, Donnino, Michael W.

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Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families gan Issa, Mahmoud Y., Chechlacz, Zinayida, Stanley, Valentina, George, Renee D., McEvoy-Venneri, Jennifer, Belandres, Denice, Elbendary, Hasnaa M., Gaber, Khaled R., Nabil, Ahmed, Abdel-Hamid, Mohamed S., Zaki, Maha S., Gleeson, Joseph G.

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Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy gan Maroofian, Reza, Sedmík, Jiří, Mazaheri, Neda, Scala, Marcello, Zaki, Maha S, Keegan, Liam P, Azizimalamiri, Reza, Issa, Mahmoud, Shariati, Gholamreza, Sedaghat, Alireza, Beetz, Christian, Bauer, Peter, Galehdari, Hamid, O’Connell, Mary A, Houlden, Henry

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Viral load and disease severity in COVID-19 gan Pawar, Rahul Dnyaneshwar, Balaji, Lakshman, Mehta, Shivani, Cole, Andrew, Liu, Xiaowen, Peradze, Natia, Grossestreuer, Anne Victoria, Issa, Mahmoud Salah, Patel, Parth, Kirby, James Edward, Rowley, Christopher Francis, Berg, Katherine Margaret, Moskowitz, Ari, Donnino, Michael William

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

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

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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia gan 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

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

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

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