检索结果 - Issa, Mahmoud

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