PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdel-Salam, Ghada M. H., Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.
Published in Human genetics (01.03.2019)
Published in Human genetics (01.03.2019)
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Delineating the phenotype of PNPLA8‐related mitochondriopathies
Abdel‐Hamid, Mohamed S., Abdel‐Salam, Ghada M. H., Abdel‐Ghafar, Sherif F., Zaki, Maha S.
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
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New Approach for Using of Mentha longifolia L. and Citrus reticulata L. Essential Oils as Wood-Biofungicides: GC-MS, SEM, and MNDO Quantum Chemical Studies
Ali, Hayssam M, Elgat, Wael A A Abo, El-Hefny, Mervat, Salem, Mohamed Z M, Taha, Ayman S, Al Farraj, Dunia A, Elshikh, Mohamed S, Hatamleh, Ashraf A, Abdel-Salam, Eslam M
Published in Materials (11.03.2021)
Published in Materials (11.03.2021)
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Novel CoQ10 antidiabetic mechanisms underlie its positive effect: modulation of insulin and adiponectine receptors, Tyrosine kinase, PI3K, glucose transporters, sRAGE and visfatin in insulin resistant/diabetic rats
Amin, Mohamed M, Asaad, Gihan F, Abdel Salam, Rania M, El-Abhar, Hanan S, Arbid, Mahmoud S
Published in PloS one (20.02.2014)
Published in PloS one (20.02.2014)
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Thermal Performance Analysis of an Indirect Solar Cooker Using a Graphene Oxide Nanofluid
Shaaban, Fatma M, Abdel-Salam, M. F, Farroh, Khaled Y, Wang, Han, Atia, Mohamed F
Published in Sustainability (01.03.2024)
Published in Sustainability (01.03.2024)
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CHST3‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
Otaify, Ghada A., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Sayed, Inas M., Abdel‐Salam, Ghada M. H., Aglan, Mona S., Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.08.2023)
Published in American journal of medical genetics. Part A (01.08.2023)
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Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia
Abdel‐Salam, Ghada M. H., Mazen, Inas, Eid, Maha, Ewida, Nour, Shaheen, Ranad, Alkuraya, Fowzan S.
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
Almannai, Mohammed, Marafi, Dana, Abdel‐Salam, Ghada M. H., Zaki, Maha S., Duan, Ruizhi, Calame, Daniel, Herman, Isabella, Levesque, Felix, Elbendary, Hasnaa M., Hegazy, Ibrahim, Chung, Wendy K., Kavus, Haluk, Saeidi, Kolsoum, Maroofian, Reza, AlHashim, Aqeela, Al‐Otaibi, Ali, Al Madhi, Asma, Abou Al‐Seood, Hager M., Alasmari, Ali, Houlden, Henry, Gleeson, Joseph G., Hunter, Jill V., Posey, Jennifer E., Lupski, James R., El‐Hattab, Ayman W.
Published in Clinical genetics (01.05.2022)
Published in Clinical genetics (01.05.2022)
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Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
Herman, Isabella, Jolly, Angad, Du, Haowei, Dawood, Moez, Abdel‐Salam, Ghada M. H., Marafi, Dana, Mitani, Tadahiro, Calame, Daniel G., Coban‐Akdemir, Zeynep, Fatih, Jawid M., Hegazy, Ibrahim, Jhangiani, Shalini N., Gibbs, Richard A., Pehlivan, Davut, Posey, Jennifer E., Lupski, James R.
Published in American journal of medical genetics. Part A (01.03.2022)
Published in American journal of medical genetics. Part A (01.03.2022)
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Expanding the KIF4A‐associated phenotype
Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel
Published in American journal of medical genetics. Part A (01.12.2021)
Published in American journal of medical genetics. Part A (01.12.2021)
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Spatial Prediction and Optimized Sampling Design for Sodium Concentration in Groundwater
Zahid, Erum, Hussain, Ijaz, Spöck, Gunter, Faisal, Muhammad, Shabbir, Javid, M AbdEl-Salam, Nasser, Hussain, Tajammal
Published in PloS one (28.09.2016)
Published in PloS one (28.09.2016)
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Effect of transition metal (M: Fe, Co or Mn) for the oxygen reduction reaction with non-precious metal catalysts in acid medium
DOMINGUEZ, C, PEREZ-ALONSO, F. J, SALAM, M. Abdel, DE LA FUENTE, J. L. Gómez, AL-THABAITI, S. A, BASAHEL, S. N, PENA, M. A, FIERRO, J. L. G, ROJAS, S
Published in International journal of hydrogen energy (26.03.2014)
Published in International journal of hydrogen energy (26.03.2014)
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