Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates

von Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.
Veröffentlicht in Orphanet J Rare Dis (2016)

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates

von Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania, Souid, Abdul-Kader, Al-Jasmi, Fatma
Veröffentlicht 2014

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)

von Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader
Veröffentlicht in JIMD Rep (2015)

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates: LSD in UAE

von Al-Jasmi, Fatma A., Tawfig, Nafisa, Berniah, Ans, Ali, Bassam R., Taleb, Mahmoud, Hertecant, Jozef L., Bastaki, Fatma, Souid, Abdul-Kader
Veröffentlicht 2013

Identification of Mutations Underlying 20 Inborn Errors of Metabolism in the United Arab Emirates Population

von Ben-Rebeh, Imen, Hertecant, Jozef L., Al-Jasmi, Fatma A., Aburawi, Hanan E., Al-Yahyaee, Said A., Al-Gazali, Lihadh, Ali, Bassam R.
Veröffentlicht 2012

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

von Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Veröffentlicht 2013

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

von van Vliet, Danique, van Wegberg, Annemiek M.J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Hertecant, Jozef L., Leuzzi, Vincenzo, Mathisen, Per, Nardecchia, Francesca, Powell, Kimberly K., Rutsch, Frank, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Veröffentlicht in Nutrients (2019)

Can untreated PKU patients escape from intellectual disability? A systematic review

von van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, François, Gizewska, Maria, Gramer, Gwendolyn, Hertecant, Jozef L., Hollak, Carla E. M., Jørgensen, Jens V., Karall, Daniela, Landau, Yuval, Leuzzi, Vincenzo, Mathisen, Per, Moseley, Kathryn, Mungan, Neslihan Ö., Nardecchia, Francesca, Õunap, Katrin, Powell, Kimberly K., Ramachandran, Radha, Rutsch, Frank, Setoodeh, Aria, Stojiljkovic, Maja, Trefz, Fritz K., Usurelu, Natalia, Wilson, Callum, van Karnebeek, Clara D., Hanley, William B., van Spronsen, Francjan J.
Veröffentlicht in Orphanet J Rare Dis (2018)