Søgeresultater - Issa, Mahmoud

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