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Author

Noura R. Eissa

Observed names: Eissa, Noura R., Noura Eissa, Noura R Eissa, Noura Raafat Eissa
ORCID: 0000-0002-7545-2015
Observed ORCID: 0000-0002-7545-2015
OpenAlex ID: A5014871955
Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II
2024 · Heba Amin Hassan, Inas Mazen, et al. · HORMONES · 7
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MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients
2022 · Heba A. Hassan, Nagia A. Fahmy, et al. · Egyptian Journal of Medical Human Genetics · 6
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Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
2021 · Mona L. Essawi, Ekram M. Fateen, et al. · Journal of Genetic Engineering and Biotechnology · 6
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Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation
2023 · Sahar Sabry, Noura R. Eissa, et al. · BMC Research Notes · 5
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An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies
2023 · Sahar Sabry, Mahmoud Y Issa, et al. · Molecular Biology Reports · 4
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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
2016 · Ekram M. Fateen, Hanan Abd El Mawgoud, et al. · Gene · 4
SMA carrier testing using Real-time PCR as a potential preconception screening tool
2022 · Noura Raafat Eissa, Heba Amin Hassan, et al. · Egyptian Journal of Medical Human Genetics · 3
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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy
2024 · Wessam E. Sharaf-Eldin, Karima Rafat, et al. · Journal of Molecular Neuroscience · 1
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Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants
2024 · Heba Amin Hassan, Mona L. Essawi, et al. · Middle East Journal of Medical Genetics · 1
Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort
2026 · Heba Amin Hassan, Mona Essawi, et al. · Biochemical Genetics
Clinical Utility of Genetic Diagnosis in Drug‐Resistant Epilepsy: Refining Classification and Guiding Therapy in an Egyptian Cohort
2026 · Wessam E. Sharaf‐Eldin, Nirmeen A. Kishk, et al. · Clinical Genetics
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Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model
2026 · Noura R Eissa, Ghada M Abdel-Salam, et al. · Human Molecular Genetics
Apolipoprotein E genotyping variations and their influence on cognitive outcome among idiopathic generalized epileptic patients
2024 · Nancy El-Salhy, Noura R. Eissa, et al. · Journal of The Arab Society for Medical Research
Works count: 16
Citation count: 37
H-index: 4
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