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

Autor: Sayed-Ahmed MM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Bassyouni HT; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Essawi ML; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Taher MB; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Gadelhak MI; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaytoun RA; Phoniatrics Unit, Faculty of Medicine, Fayoum University, Fayoum, Egypt., Abdelmonem AA; Phoniatrics Unit, Faculty of Medicine, Beni-Suef University, Beni Suef, Egypt., Elbagoury NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. Naghamelbagoury@hotmail.com.

Publikováno v: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Oct 28; Vol. 74 (4), pp. 102. Date of Electronic Publication: 2024 Oct 28.

Corrigendum to "Defining the molecular pathology and consequent phenotypes in Egyptian HB patients" [J. Genet. Eng. Biotechnol. 19(1) (2021) 75].

Autor: El-Kamah GY; Clinical Genetics Department, Human Genetics and Genome Research division (HGGR), National Research Centre (NRC), Cairo, Egypt., Mosaad RM; Molecular Genetics and Enzymology Department, HGGR, NRC, El Buhouth St., Dokki, Cairo, Egypt. Electronic address: drrehabmosaad@gmail.com., Taher MB; Clinical Genetics Department, Human Genetics and Genome Research division (HGGR), National Research Centre (NRC), Cairo, Egypt., Amr KS; Medical Molecular Genetics, HGGR, NRC, Cairo, Egypt.

Publikováno v: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2024 Jun; Vol. 22 (2), pp. 100374. Date of Electronic Publication: 2024 Apr 02.

Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.

Autor: Sokkar MF; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. monasokkar@yahoo.com., Hamdy M; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Erian PS; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Mosaad RM; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Taher MB; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., El-Sayed H; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Al Komy M; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Mohamed AM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., Amr KS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt., El-Kamah GY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.

Publikováno v: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2023 Nov 29; Vol. 21 (1), pp. 149. Date of Electronic Publication: 2023 Nov 29.

Expanding the phenotypic spectrum and clinical severity associated with WLS gene.

Autor: Abdel-Salam GMH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com., Afifi HH; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ahmed NEB; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Taher MB; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Kamah G; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany., Nürnberg PN; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine, University Hospital Cologne, Cologne, Germany., Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, Cologne, Germany.; Senckenberg Centre for Human Genetics, Dr. Senckenbergische Stiftung, 60314, Frankfurt am Main, Germany.

Publikováno v: Journal of human genetics [J Hum Genet] 2023 Sep; Vol. 68 (9), pp. 607-613. Date of Electronic Publication: 2023 Apr 28.

Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-Year Study.

Autor: Afifi HH; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Developmental Assessment and Genetic Disorders Clinic, National Research Centre, Cairo, Egypt., Gaber KR; Division of Human Genetics and Genome Research, Department of Prenatal Diagnosis and Fetal Medicine, National Research Centre, Cairo, Egypt., Thomas MM; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Developmental Assessment and Genetic Disorders Clinic, National Research Centre, Cairo, Egypt., Taher MB; Division of Human Genetics and Genome Research, Department of Clinical Genetics, Developmental Assessment and Genetic Disorders Clinic, National Research Centre, Cairo, Egypt., Tosson AMS; Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: American journal of perinatology [Am J Perinatol] 2022 Nov; Vol. 39 (15), pp. 1659-1667. Date of Electronic Publication: 2021 Feb 26.