Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
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
Published in Human mutation (01.03.2019)
Published in Human mutation (01.03.2019)
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Journal Article
Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive
Abdelrahman, Hanadi A., Akawi, Nadia, Al‐Shamsi, Aisha M., Ali, Amanat, Al‐Jasmi, Fatma, John, Anne, Hertecant, Jozef, Al‐Gazali, Lihadh, Ali, Bassam R.
Published in Clinical genetics (01.04.2022)
Published in Clinical genetics (01.04.2022)
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Journal Article
A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency
Al‐Thihli, Khalid, Al Hashmi, Nadia, Al Balushi, Aaisha, Al‐Habsi, Asila, Al‐Ajmi, Eiman, Al‐Jasmi, Fatma, Al‐Murshedi, Fathiya
Published in JIMD reports (01.07.2024)
Published in JIMD reports (01.07.2024)
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Journal Article
Homozygous variants in pyrroline‐5‐carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy
Meng, Linyan, Donti, Taraka, Xia, Fan, Niu, Zhiyv, Al Shamsi, Aisha, Hertecant, Jozef, Al‐Jasmi, Fatma, Gibson, James B., Nagakura, Honey, Zhang, Jing, He, Weimin, Eng, Christine, Yang, Yaping, Elsea, Sarah H.
Published in American journal of medical genetics. Part A (01.02.2017)
Published in American journal of medical genetics. Part A (01.02.2017)
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Journal Article
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients
Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Published in Genes (27.08.2021)
Published in Genes (27.08.2021)
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Journal Article
Guidelines for acute management of hyperammonemia in the Middle East region
Alfadhel, Majid, Mutairi, Fuad Al, Makhseed, Nawal, Jasmi, Fatma Al, Al-Thihli, Khalid, Al-Jishi, Emtithal, AlSayed, Moeenaldeen, Al-Hassnan, Zuhair N, Al-Murshedi, Fathiya, Häberle, Johannes, Ben-Omran, Tawfeg
Published in Therapeutics and clinical risk management (01.01.2016)
Published in Therapeutics and clinical risk management (01.01.2016)
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Journal Article
Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases
Al Jasmi, Fatma, Al Zaabi, Nuha, Al-Thihli, Khalid, Al Teneiji, Amal M, Hertecant, Jozef, El-Hattab, Ayman W
Published in Journal of central nervous system disease (2020)
Published in Journal of central nervous system disease (2020)
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Journal Article
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A Study from Tawam Hospital Metabolic Center , United Arab Emirates
Hertecant , Jozef L, Al-Shamsi , Aisha, Al-Hamad , Sania, Souid , Abdul-Kader, Al-Jasmi , Fatma
Published in Sultan Qaboos University medical journal (01.02.2014)
Published in Sultan Qaboos University medical journal (01.02.2014)
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Journal Article
An expert rule-based approach for identifying infantile-onset Pompe disease patients using retrospective electronic health records
Rustamov, Jaloliddin, Rustamov, Zahiriddin, Mohamad, Mohd Saberi, Zaki, Nazar, Al Tenaiji, Amal, Al Harbi, Mariam, Al Jasmi, Fatma
Published in Scientific reports (14.09.2024)
Published in Scientific reports (14.09.2024)
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Journal Article
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011–2014)
Al-Jasmi, Fatma A., Al-Shamsi, Aisha, Hertecant, Jozef L., Al-Hamad, Sania M., Souid, Abdul-Kader
Published in JIMD Reports, Volume 28 (01.01.2016)
Published in JIMD Reports, Volume 28 (01.01.2016)
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Book Chapter
Journal Article
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Al-Hassnan, Zuhair, Al Hashmi, Nadia, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Al Teneiji, Amal
Published in Orphanet journal of rare diseases (23.11.2023)
Published in Orphanet journal of rare diseases (23.11.2023)
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Journal Article
Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report
Albawa'neh, Areej, Al Mansoori, Mariam Ghareeb, Diab, Sehriban, Al Jasmi, Fatma, Akawi, Nadia
Published in Frontiers in genetics (13.12.2022)
Published in Frontiers in genetics (13.12.2022)
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Journal Article
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene
Hertecant, Jozef L, Ben-Rebeh, Imen, Marah, Muhaned A, Abbas, Thikra, Ayadi, Leila, Ben Salem, Salma, Al-Jasmi, Fatma A, Al-Gazali, Lihadh, Al-Yahyaee, Said A, Ali, Bassam R
Published in European journal of medical genetics (01.12.2012)
Published in European journal of medical genetics (01.12.2012)
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Journal Article
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families
Al Busaidi, Marwa, Mohamed, Feda E, Al-Ajmi, Eiman, Al Hashmi, Nadia, Al-Thihli, Khalid, Al Futaisi, Amna, Al Mamari, Watfa, Al-Murshedi, Fathiya, Al-Jasmi, Fatma
Published in Orphanet journal of rare diseases (03.11.2023)
Published in Orphanet journal of rare diseases (03.11.2023)
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Journal Article
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
Hassnan, Zuhair Al, Hashmi, Nadia Al, Makhseed, Nawal, Omran, Tawfeg Ben, Al Jasmi, Fatma, Teneiji, Amal Al
Published in Orphanet journal of rare diseases (27.10.2022)
Published in Orphanet journal of rare diseases (27.10.2022)
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Journal Article
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes
Ahmad, Rahaf M, Ali, Bassam R, Al-Jasmi, Fatma, Al Dhaheri, Noura, Al Turki, Saeed, Kizhakkedath, Praseetha, Mohamad, Mohd Saberi
Published in Human genomics (11.09.2024)
Published in Human genomics (11.09.2024)
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Journal Article