Works by Essawi, Mona L.

Results: 13

ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-06857-2

By:

Rafat, Karima;
Abdel-Aleem, Asmaa F.;
Elbendary, Hasnaa M.;
Issa, Mahmoud Y.;
Essawi, Mona L.;
Abdel-Ghafar, Sherif F.;
Abdel-Salam, Ghada M. H.;
Abdel-Hamid, Mohamed S.;
Zaki, Maha S.

Publication type:

Article

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.

Published in:

Sexual Development, 2016, v. 10, n. 2, p. 66, doi. 10.1159/000445311

By:

Hassan, Heba amin;
Mazen, Inas;
Gad, Yehia Zakaria;
ali, Ola S.M.;
Mekkawy, Mona;
Essawi, Mona L.

Publication type:

Article

Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338

By:

Zaki, Maha S.;
Sharaf‐Eldin, Wessam E.;
Rafat, Karima;
Elbendary, Hasnaa M.;
Kamel, Mona;
Elkhateeb, Nour;
Noureldeen, Mahmoud M.;
Abdeltawab, Mohamed A.;
Sadek, Abdelrahim A.;
Essawi, Mona L.;
Lau, Tracy;
Murphy, David;
Abdel‐Hamid, Mohamed S.;
Holuden, Henry;
Issa, Mahmoud Y.;
Gleeson, Joseph G.

Publication type:

Article

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants.

Published in:

European Journal of Pediatrics, 2025, v. 184, n. 4, p. 1, doi. 10.1007/s00431-025-06052-5

By:

Elbagoury, Nagham M.;
Ashaat, Engy A.;
Mekkawy, Mona K.;
Mohamed, Ragaey Y.;
Askoura, Anas M.;
Milad, Peter M.;
Essawi, Mona L.

Publication type:

Article

First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Published in:

Molecular Syndromology, 2021, v. 12, n. 5, p. 279, doi. 10.1159/000516607

By:

Thomas, Manal M.;
Ashaat, Engy A.;
Otaify, Ghada A.;
Ismail, Samira;
Essawi, Mona L.;
Abdel-Hamid, Mohamed S.;
Hassan, Heba A.;
Alsaiedi, Sonia A.;
Aglan, Mona;
El Ruby, Mona O.;
Temtamy, Samia

Publication type:

Article

MLPA analysis for molecular diagnosis of spinal muscular atrophy and correlation of 5q13.2 genes with disease phenotype in Egyptian patients.

Published in:

Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00373-y

By:

Hassan, Heba A.;
Fahmy, Nagia A.;
El-Bagoury, Nagham M.;
Eissa, Noura R.;
Sharaf-Eldin, Wessam E.;
Issa, Mahmoud Y.;
Zaki, Maha S.;
Essawi, Mona L.

Publication type:

Article

Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.

Published in:

Journal of Molecular Neuroscience, 2024, v. 74, n. 4, p. 1, doi. 10.1007/s12031-024-02279-3

By:

Sayed-Ahmed, Mohammed M.;
El-Bassyouni, Hala T.;
Afifi, Hanan H.;
Essawi, Mona L.;
Taher, Mohamed B.;
Gadelhak, Mohamed I.;
Zaytoun, Rehab A.;
Abdelmonem, Ahmed A.;
Elbagoury, Nagham M.

Publication type:

Article

Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

Published in:

Journal of Molecular Neuroscience, 2024, v. 74, n. 4, p. 1, doi. 10.1007/s12031-024-02266-8

By:

Sharaf-Eldin, Wessam E.;
Rafat, Karima;
Issa, Mahmoud Y.;
Elbendary, Hasnaa M.;
Eissa, Noura R.;
Hawaary, Bahaa;
Gaboon, Nagwa E. A.;
Maroofian, Reza;
Gleeson, Joseph G.;
Essawi, Mona L.;
Zaki, Maha S.

Publication type:

Article

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00070-5

By:

Hassan, Heba A.;
Mazen, Inas;
Mekkawy, Mona K.;
Elaidy, Aya;
Kamel, Alaa;
Essawi, Mona L.

Publication type:

Article

Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants.

Published in:

Middle East Journal of Medical Genetics, 2024, v. 13, n. 1, p. 9, doi. 10.21608/mxe.2024.394587

By:

Hassan, Heba A.;
Essawi, Mona L.;
Esmail, Asmaa M.;
Eissa, Noura R.;
Aglan, Mona S.;
Temtamy, Samia A.

Publication type:

Article

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants.

Published in:

Middle East Journal of Medical Genetics, 2022, v. 11, n. 1, p. 1, doi. 10.21608/MXE.2023.283877

By:

Eissa, Noura R.;
Essawi, Mona L.;
Abdel-Salam, Ghada M. H.;
Hassan, Heba A.;
Fateen, Ekram M.;
Temtamy, Samia A.

Publication type:

Article

Genetic diagnosis of Prader-Willi syndrome.

Published in:

Middle East Journal of Medical Genetics, 2016, v. 5, n. 2, p. 45, doi. 10.1097/01.MXE.0000484369.78928.9e

By:

Khedr, Azzah A.;
Meguid, Nagwa A.;
Mohamed, Amal M.;
Ismail, Suzan R.;
Nazmy, Nahla A.;
Hassan, Heba A.;
Essawi, Mona L.

Publication type:

Article

Mutation analysis of the GJB2 and GJB6 genes in Egyptian patients with autosomal recessive sensorineural nonsyndromic hearing loss.

Published in:

Middle East Journal of Medical Genetics, 2014, v. 3, n. 1, p. 11, doi. 10.1097/01.MXE.0000438176.01557.b9

By:

Elbagoury, Nagham M.;
Soliman, Hala N.;
Mohammed, Ola S.;
Ghorab, Eman A.;
Elruby, Mona O.;
El-bassyouni, Hala T.;
Essawi, Mona L.

Publication type:

Article