Documentation of a novel FBP1 gene mutation in the Arabian ethnicity: a case report
Almousa, Maher, Aljomaa, Mohammad, Hamey, Shekhey, Alasmar, Diana
Published in Journal of medical case reports (09.04.2024)
Published in Journal of medical case reports (09.04.2024)
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Journal Article
Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria
Jaber, Rida, Salame, Hadi, Zeindeen, Mostafa, Jawad, Ali, Fawaz, Hassan, Alasmar, Diana
Published in BMC neurology (05.11.2024)
Published in BMC neurology (05.11.2024)
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Journal Article
Kenny-Caffey syndrome type 1
Jabbour, Tony El, Aboursheid, Tarek, Keifo, Mohammad Baraa, Maksoud, Ismael, Alasmar, Diana
Published in Avicenna journal of medicine (01.07.2014)
Published in Avicenna journal of medicine (01.07.2014)
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Journal Article
Novel guanidinoacetate methyltransferase (GAMT) mutation associated with cerebral creatine deficiency syndrome in a Syrian child: a case report
Alhomsi, Dima, Abdalsalam, Dania, Sulaiman, Rama, Bakleh, Sameer, Alasmar, Diana
Published in Annals of medicine and surgery (01.05.2023)
Published in Annals of medicine and surgery (01.05.2023)
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Journal Article
Novel mutation in the RAB3GAP1 gene, the first diagnosed Warburg Micro syndrome case in Syria
Tenawi, Soubhi, Al Khudari, Rawan, Alasmar, Diana
Published in Oxford Medical Case Reports (01.04.2020)
Published in Oxford Medical Case Reports (01.04.2020)
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Journal Article
A case report of molybdenum cofactor deficiency type A: the first case diagnosed in Syria
Kardah, Haidara, Al-Zoubi, Hamza, Odeh, Zahra, Joumaa, Ranim, Alasmar, Diana
Published in Annals of medicine and surgery (01.03.2024)
Published in Annals of medicine and surgery (01.03.2024)
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Journal Article
Mutation spectrum of phenylketonuria in Syrian population: Genotype–phenotype correlation
Murad, Hossam, Dabboul, Amir, Moassas, Faten, Alasmar, Diana, Al-achkar, Walid
Published in Gene (10.10.2013)
Published in Gene (10.10.2013)
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Journal Article
Kenny-Caffey syndrome type 1
El Jabbour, Tony, Aboursheid, Tarek, Keifo, Mohammad Baraa, Maksoud, Ismael, Alasmar, Diana
Published in Avicenna journal of medicine (01.07.2014)
Published in Avicenna journal of medicine (01.07.2014)
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