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1 . Academic Journal
The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region
저자
by
Moeenaldeen AlSayed
;
Fatma Al-Jasmi
;
Tawfeg Ben Omran
;
Fathiya Al-Murshedi
;
Rawda Sunbul
, et al.
소스
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 41-56 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
저자
by
Zuhair Al-Hassnan
;
Nadia Al Hashmi
;
Nawal Makhseed
;
Tawfeg Ben Omran
;
Fatma Al Jasmi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Open Access (BioMed Central)
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7 . Academic Journal
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region
저자
by
Zuhair Al-Hassnan
;
Nadia Al Hashmi
;
Nawal Makhseed
;
Tawfeg Ben Omran
;
Fatma Al Jasmi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Open Access (BioMed Central)
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Web of Science
Scopus
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7 . Academic Journal
Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature
저자
by
Amal Al-Naimi
;
Haneen Toma
;
Sara G. Hamad
;
Tawfeg Ben Omran
.
소스
Case Reports in Genetics, Vol 2022 (2022)
Open Access (Wiley)
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6 .
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
저자
by
Tamara Dangouloff
;
Eva Vrščaj
;
Laurent Servais
;
Damjan Osredkar
;
Thierry Adoukonou
, et al.
소스
Neuromuscular Disorders
. 31:574-582
Full Text (Clinical Key)
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7 .
The re-occurrence of dilated cardiomyopathy in propionic acidemia after liver transplantation requiring heart transplant, first case from Middle East
저자
by
Yahia Hejazi
;
Ziyad M. Hijazi
;
Hesham Al-saloos
;
Tawfeg Ben Omran
.
소스
Cardiology in the young
.
Scopus
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6 .
Cancer genetics program: Follow‐up on clinical genetics and genomic medicine in Qatar
저자
by
Hekmet Bugrein
;
Salha Bujassoum Al-Bader
;
Tawfeg Ben Omran
;
Hafedh Ghazouani
;
Nema Abdou
, et al.
소스
Molecular Genetics & Genomic Medicine
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7 .
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar
저자
by
Asmaa Azzam
;
Amal Robay
;
Fizza Butt
;
Maen Abu Ziki
;
Juan L Rodrigues-Flores
, et al.
소스
Human Molecular Genetics
.
Full Text (OUP Near Archive)
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7 .
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
저자
by
Georg F. Hoffmann
;
Ute Spiekerkötter
;
Friederike Bürger
;
Hilal Al Rifai
;
Ghassan Abdoh
, et al.
소스
Journal of Inherited Metabolic Disease
. 41:81-90
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