Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing
Abdel-Hamid, Mohamed S, Abouzaid, Maha R, Mostafa, Mostafa I, Ahmed, Nermeen Eb
Published in Archives of oral biology (01.02.2024)
Published in Archives of oral biology (01.02.2024)
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A proposed numerical method for absolute efficiency calibration of α-spectrometers and its application for activity calculation
El-Kourghly, K.M., El-Gammal, W., Damoom, Mohamed M., Alhawsawi, Abdulsalam M., Abdelati, M., Khedr, H.I., Abouzaid, R.
Published in Heliyon (15.04.2024)
Published in Heliyon (15.04.2024)
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Correction: Emanuel syndrome due to unusual pattern
El-Bassyouni, Hala T., Ashaat, Engy A., Hamed, Khaled, Abouzaid, Maha R., Abd-Elnaby, Azza E., Shehab, Marwa
Published in Egyptian Journal of Medical Human Genetics (01.12.2024)
Published in Egyptian Journal of Medical Human Genetics (01.12.2024)
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Gene Mutations of the Three Ectodysplasin Pathway Key Players ( EDA , EDAR , and EDARADD ) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations
Ahmed, Hoda A, El-Kamah, Ghada Y, Rabie, Eman, Mostafa, Mostafa I, Abouzaid, Maha R, Hassib, Nehal F, Mehrez, Mennat I, Abdel-Kader, Mohamed A, Mohsen, Yasmine H, Zada, Suher K, Amr, Khalda S, Sayed, Inas S M
Published in Genes (08.09.2021)
Published in Genes (08.09.2021)
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A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara’s disease)
Hassib, Nehal F., Mehrez, Mennat, Abouzaid, Maha R., Mostafa, Mostafa I., Elhossini, Rasha M., Abdel-Hamid, Mohamed S.
Published in Archives of oral biology (01.11.2024)
Published in Archives of oral biology (01.11.2024)
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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
Abdel‐Salam, Ghada M. H., Sayed, Inas S. M., Afifi, Hanan H., Abdel‐Ghafar, Sherif F., Abouzaid, Maha R., Ismail, Samira I., Aglan, Mona S., Issa, Mahmoud Y., EL‐Bassyouni, Hala T., El‐Kamah, Ghada, Effat, Laila K., Eid, Maha, Zaki, Maha S., Temtamy, Samia A., Abdel‐Hamid, Mohamed S.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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