Homozygous NPHP1 Deletions in Egyptian Children with Nephronophthisis Including an Infantile Onset Patient

по Soliman, Neveen A, Hildebrandt, Friedhelm, Allen, Susan J, Otto, Edgar A, Nabhan, Marwa M, Badr, Ahmed M
Опубликовано 2010

Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature

по Nabhan, Marwa M., ElKhateeb, Nour, Braun, Daniela A., Eun, Sungho, Saleem, Sahar N., Gee, Heon Yung, Hildebrandt, Friedhelm, Soliman, Neveen A.
Опубликовано в: Am J Med Genet A (2017)

Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience

по Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A., Nabhan, Marwa M., Allen, Susan J., Badr, Ahmed M., Sheba, Maha, Fadda, Sawsan, Gawdat, Ghada, El-Kiky, Hassan
Опубликовано 2012

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center

по Soliman, Neveen A., Nabhan, Marwa M., Abdelrahman, Safaa M., Abdelaziz, Hanan, Helmy, Rasha, Ghanim, Khaled, Bazaraa, Hafez M., Badr, Ahmed M., Tolba, Omar A., Kotb, Magd A., Eweeda, Khaled M., Fayez, Alaa
Опубликовано в: Nephrol Ther (2017)

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies

по Schueler, Markus, Halbritter, Jan, Phelps, Ian G., Braun, Daniela A., Otto, Edgar A., Porath, Jonathan D., Gee, Heon Yung, Shendure, Jay, O’Roak, Brian J., Lawson, Jennifer A., Soliman, Neveen A., Nabhan, Marwa M., Doherty, Dan, Hildebrandt, Friedhelm
Опубликовано в: J Med Genet (2015)

Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

по Elmonem, Mohamed A, Makar, Samuel H, van den Heuvel, Lambertus, Abdelaziz, Hanan, Abdelrahman, Safaa M, Bossuyt, Xavier, Janssen, Mirian C, Cornelissen, Elisabeth AM, Lefeber, Dirk J, Joosten, Leo AB, Nabhan, Marwa M, Arcolino, Fanny O, Hassan, Fayza A, Gaide Chevronnay, Héloïse P, Soliman, Neveen A, Levtchenko, Elena
Опубликовано в: Orphanet J Rare Dis (2014)