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Rana Alamro
Rana Alamro
Biology
Exome sequencing
Genetics
Ciliopathies
Missense mutation
4
Papers
158
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ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder
2015
Journal of Medical Genetics
Zuhair N. Al-Hassnan
Mazhor Al-Dosary
Majid Alfadhel
Eissa Faqeih
Maysoon Alsagob
Rosan Kenana
Rawan Almass
Olfat Al-Harazi
Hindi Al-Hindi
Omhani I Malibari
Faten B Almutari
Sahar Tulbah
Faten Alhadeq
Tarfa Al-Sheddi
Rana Alamro
Ali Alasmari
Makki Almuntashri
Hesham Alshaalan
Futwan Al-Mohanna
Dilek Colak
Namik Kaya
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Citations (69)
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies
2015
Human Molecular Genetics
Ranad Shaheen
Miriam Schmidts
Eissa Faqeih
Amal Hashem
Ekkehart Lausch
Isabel Holder
Andrea Superti Furga
Hannah M. Mitchison
Agaadir Almoisheer
Rana Alamro
Tarfa Alshiddi
Fatma Alzahrani
Philip L. Beales
Fowzan S. Alkuraya
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Citations (52)
Role of Centriolar Proteins in Skeletal Ciliopathies
2014
Ranad Shaheen
Miriam Schmidts
Eissa Faqeih
Amal Hashem
Ekkehart Lausch
Isabel Holder
Andrea Superti Furga
Hannah M. Mitchison
Agaadir Almoisheer
Rana Alamro
Tarfa Alshiddi
Fatma Alzahrani
Philip L. Beales
Fowzan S. Alkuraya
Saudi Arabia
Philip L. Beales
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Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.
2013
American Journal of Human Genetics
Hanan E. Shamseldin
Anna Rajab
Amal Alhashem
Ranad Shaheen
Tarfa Alshidi
Rana Alamro
Salma Mohammed Al Harassi
Fowzan S. Alkuraya
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Citations (37)
1