Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease

par Al-Jasmi, Fatma, Moldovan, Laura, Clarke, Joe TR
Publié 2010

SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure

par Al Zaabi, Nuha, Al Menhali, Noora, Al‐Jasmi, Fatma
Publié dans Mol Genet Genomic Med (2017)

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

par Mohamed, Fedah E., Al-Gazali, Lihadh, Al-Jasmi, Fatma, Ali, Bassam R.
Publié dans Front Pharmacol (2017)

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

par Al-Shamsi, Aisha, Hertecant, Jozef L., Souid, Abdul-Kader, Al-Jasmi, Fatma A.
Publié dans Orphanet J Rare Dis (2016)

Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich Culture

par Al-Jasmi, Fatma, Pramathan, Thachillath, Swid, Adnan, Sahari, Bahjat, Penefsky, Harvey S., Souid, Abdul-Kader
Publié 2013

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

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

LINS, a modulator of the WNT signaling pathway, is involved in human cognition

par Akawi, Nadia A, Al-Jasmi, Fatma, Al-Shamsi, Aisha M, Ali, Bassam R, Al-Gazali, Lihadh
Publié 2013

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

par Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader
Publié dans JIMD Rep (2015)

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

par Al Jasmi, Fatma, Al Zaabi, Nuha, Al-Thihli, Khalid, Al Teneiji, Amal M, Hertecant, Jozef, El-Hattab, Ayman W
Publié dans J Cent Nerv Syst Dis (2020)

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

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

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

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

Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism

par Al-Dirbashi, Osama Y., Alfadhel, Majid, Al-Thihli, Khalid, Al Dhahouri, Nahid, Langhans, Claus-Dieter, Al Hammadi, Zalikha, Al-Shamsi, Aisha, Hertecant, Jozef, Okun, Jürgen G., Hoffmann, Georg F., Al-Jasmi, Fatma
Publié dans Sci Rep (2019)

Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies

par Rodan, Lance H., Hauptman, Marissa, D’Gama, Alissa M., Qualls, Anita E., Cao, Siqi, Tuschl, Karin, Al-Jasmi, Fatma, Hertecant, Jozef, Hayflick, Susan J., Wessling-Resnick, Marianne, Yang, Edward T., Berry, Gerard T., Gropman, Andrea, Woolf, Alan D., Agrawal, Pankaj B.
Publié dans Mol Genet Metab (2018)

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group

par Al Jasmi, Fatma, Al Jumah, Mohammed, Alqarni, Fatimah, Al-Sanna’a, Nouriya, Al-Sharif, Fawziah, Bohlega, Saeed, Cupler, Edward J., Fathalla, Waseem, Hamdan, Mohamed A., Makhseed, Nawal, Nafissi, Shahriar, Nilipour, Yalda, Selim, Laila, Shembesh, Nuri, Sunbul, Rawda, Tonekaboni, Seyed Hassan
Publié dans BMC Neurol (2015)

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

par Rehman, Atteeq U., Najafi, Maryam, Kambouris, Marios, Al‐Gazali, Lihadh, Makrythanasis, Periklis, Rad, Abolfazl, Maroofian, Reza, Rajab, Anna, Stark, Zornitza, Hunter, Jill V., Bakey, Zeineb, Tokita, Mari J., He, Weimin, Vetrini, Francesco, Petersen, Andrea, Santoni, Federico A., Hamamy, Hanan, Wu, Kaman, Al‐Jasmi, Fatma, Helmstädter, Martin, Arnold, Sebastian J., Xia, Fan, Richmond, Christopher, Liu, Pengfei, Karimiani, Ehsan Ghayoor, Karami Madani, GholamReza, Lunke, Sebastian, El‐Shanti, Hatem, Eng, Christine M., Antonarakis, Stylianos E., Hertecant, Jozef, Walkiewicz, Magdalena, Yang, Yaping, Schmidts, Miriam
Publié dans Hum Mutat (2018)