Rezultati - Issa, Mahmoud

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