المؤلفون: Nawaz, Hamed, Parveen, Asia, Khan, Sher Alam, Zalan, Abul Khair, Khan, Muhammad Adnan, Muhammad, Noor, Hassib, Nehal F., Mostafa, Mostafa I., Elhossini, Rasha M., Roshdy, Nehal Nabil, Ullah, Asmat, Arif, Amina, Khan, Saadullah, Ammerpohl, Ole, Wasif, Naveed

المصدر: Nawaz , H , Parveen , A , Khan , S A , Zalan , A K , Khan , M A , Muhammad , N , Hassib , N F , Mostafa , M I , Elhossini , R M , Roshdy , N N , Ullah , A , Arif , A , Khan , S , Ammerpohl , O & Wasif , N 2024 , ' Brachyolmia, dental anomalies and short stature (DASS) : Phenotype and genotype analyses of Egyptian and Pakistani patients ' , Heliyon , vol. 10 , no. 1 , e23688 . https://doi.org/10.1016/j.heliyon.2023.e23688Test

مصطلحات موضوعية: Amelogenesis imperfecta, Brachyolmia, Exome sequencing, Frameshift variants, Hearing impairment, Homozygous splice acceptor site, LTBP3

العلاقة: https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test

الإتاحة: https://doi.org/10.1016/j.heliyon.2023.e23688Test
https://pure.au.dk/portal/en/publications/f4b2684e-d017-4f86-b55b-69ef17b224b7Test
http://www.scopus.com/inward/record.url?scp=85180281967&partnerID=8YFLogxKTest

المؤلفون: Ashaat, Engy A., Ahmed, Hoda A., Elaraby, Nesma M., Fayez, Alaaeldin, Metwally, Ammal M., Mekkawy, Mona K., Hussen, Dalia Farouk, Ashaat, Neveen A., Elhossini, Rasha M., ElAwady, Heba Ahmed, Abdelgawad, Randa H. A., Gammal, Mona El, Al Kersh, Mohamed Ahmed, Saleh, Dina Amin

المساهمون: National Research Centre Egypt

المصدر: Molecular Neurobiology ; ISSN 0893-7648 1559-1182

مصطلحات موضوعية: Neuroscience (miscellaneous), Cellular and Molecular Neuroscience, Neurology

الإتاحة: https://doi.org/10.1007/s12035-023-03866-yTest

المؤلفون: Elhossini, Rasha M., Elbendary, Hasnaa M., Rafat, Karima, Ghorab, Raghda M., Abdel-Hamid, Mohamed S.

المساهمون: STDF, National Research Centre Egypt

المصدر: Molecular Genetics and Genomics ; volume 298, issue 3, page 709-720 ; ISSN 1617-4615 1617-4623

مصطلحات موضوعية: Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1007/s00438-023-02009-1Test

المؤلفون: Elhossini, Rasha M., Sayed, Inas M., Hellal, Usama Saad, Mahmoud, Sarah A. M., Aglan, Mona S., Hassib, Nehal F., Abdel‐Hamid, Mohamed S.

المصدر: American Journal of Medical Genetics. Part A; Jan2024, Vol. 194 Issue 1, p39-45, 7p

المؤلفون: 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.

المصدر: American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2100-2112, 13p

المؤلفون: Elhossini, Rasha M., Sayed, Inas M., Hellal, Usama Saad, Mahmoud, Sarah A. M., Aglan, Mona S., Hassib, Nehal F., Abdel‐Hamid, Mohamed S.

المساهمون: Science and Technology Development Fund

المصدر: American Journal of Medical Genetics Part A ; volume 194, issue 1, page 39-45 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.63415Test

المؤلفون: Otaify, Ghada A., Abdel‐Hamid, Mohamed S., Hassib, Nehal F., Elhossini, Rasha M., Abdel‐Ghafar, Sherif F., Aglan, Mona S.

المساهمون: Science and Technology Development Fund

المصدر: American Journal of Medical Genetics Part A ; volume 188, issue 6, page 1815-1825 ; ISSN 1552-4825 1552-4833

الإتاحة: https://doi.org/10.1002/ajmg.a.62718Test

المؤلفون: Abdel-Hamid, Mohamed S., Elhossini, Rasha M., Otaify, Ghada A., Abdel-Ghafar, Sherif F., Aglan, Mona S.

المساهمون: Science and Technology Development Fund

المصدر: Osteoporosis International ; volume 33, issue 7, page 1501-1510 ; ISSN 0937-941X 1433-2965

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1007/s00198-022-06313-1Test