Publications by authors named "Hadeel Al Rukban"

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Adult genomic medicine: lessons from a multisite study of 2700 patients.
Khadijah Bakur, Halima Hamid, Bader Alhaddad, Majid Alfadhel, Amal Alhashem, Hadeel Al Rukban

Genome Med· September 2025

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Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case.
Talal AlAnzi, Sarar Mohamed, Amal AlHashem, Hadeel AlRukban

Cureus· April 2024

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A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Hanan E Shamseldin, Mukunth Sadagopan, Javier Martini, Ruslan Al-Ali, Mandy Radefeldt, Hadeel A AlRukban

Hum Genet· October 2023

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The genetic landscape of familial congenital hydrocephalus.
Ranad Shaheen, Mohammed Adeeb Sebai, Nisha Patel, Nour Ewida, Wesam Kurdi, Hadeel Al Rukban

Ann Neurol· June 2017

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Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.
Maha Saleh, Ioana Miron, Hadeel Al-Rukban, David Chitayat, Marjan M Nezarati

Prenat Diagn· September 2016

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Clinical spectrum of infantile scimitar syndrome: A tertiary center experience.
Hadeel Al Rukban, Mohammed Al Ghaihab, Omar Tamimi, Suhail Al-Saleh

Ann Pediatr Cardiol· January 2014

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