نتائج البحث - "Elhossini, Rasha"

1

دورية أكاديمية

Brachyolmia, dental anomalies and short stature (DASS):Phenotype and genotype analyses of Egyptian and Pakistani patients

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

View record in BASE

2

دورية أكاديمية

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy

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

View record in BASE

3

دورية أكاديمية

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations

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

View record in BASE

4

دورية أكاديمية

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

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

المصدر: Molecular Neurobiology; Aug2024, Vol. 61 Issue 8, p4949-4961, 13p

5

دورية أكاديمية

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

المساهمون: FEDER funds through ISCIII, Spanish Ministry of Economy and Competitiveness

المصدر: Journal of Medical Genetics ; volume 61, issue 7, page 633-644 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2023-109546Test

View record in BASE

6

دورية أكاديمية

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

المؤلفون: Iturrate, Asier, Rivera-Barahona, Ana, Flores, Carmen-Lisset, Otaify, Ghada A., Elhossini, Rasha, Perez-Sanz, Marina L., Nevado, Julián, Tenorio-Castano, Jair, Triviño, Juan Carlos, Garcia-Gonzalo, Francesc R., Piceci-Sparascio, Francesca, De Luca, Alessandro, Martínez, Leopoldo, Kalaycı, Tugba, Lapunzina, Pablo, Altunoglu, Umut, Aglan, Mona, Abdalla, Ebtesam, Ruiz-Perez, Victor L.

المساهمون: National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, Gobierno de España Ministerio de Ciencia e Innovación, National Institutes of Health, Ministerio de Ciencia e Innovación, National Heart, Lung, and Blood Institute

المصدر: The American Journal of Human Genetics ; volume 109, issue 10, page 1828-1849 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.08.009Test
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929722003615?httpAccept=text/plainTest

View record in BASE