Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
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Published in Brain (London, England : 1878) (01.08.2023)
Published in Brain (London, England : 1878) (01.08.2023)
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Journal Article
Congenital myasthenic syndrome type 23 caused by a missense homozygous c.205G>T (p.Asp69Tyr) in SLC25A1 gene in four Emirati patients from a single family
AlShamsi, Aisha, Shaukat, Qudsia, AlKuwaiti, Mohammed
Published in Journal of Biochemical and Clinical Genetics (01.06.2021)
Published in Journal of Biochemical and Clinical Genetics (01.06.2021)
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Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review
Yusuf, Asmaa, Alhaj, Omar, Aldaheri, Afra, AlShamsi, Aisha, AlMarshoodi, Mozah, AlKindi, Fatima, Mohammed, Farooqi, Almazrouei, Raya
Published in JIM - high impact case reports (01.01.2023)
Published in JIM - high impact case reports (01.01.2023)
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