Publications by authors named "Alrukban Hadeel"

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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality and disrupt mitochondrial function.
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Jose A Rodriguez, Annarita Scardamaglia, Hadeel Abdollah E Alrukban

medRxiv· July 2025

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Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.
Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi

JIMD Rep· January 2025

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Correction: Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, Huda Hussein Elwasila Eltayeb, Noura Mostafa Mohamed Mostafa, Hadeel Ibrahim Bin Zaid, Hadeel Abdollah Alrukban

Hum Genomics· October 2024

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Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.
Liena Elbaghir Omer Elsayed, Norah Ayed AlHarbi, Ashwaq Mohammed Alqarni, Huda Hussein Elwasila Eltayeb, Noura Mostafa Mohamed Mostafa, Hadeel Ibrahim Bin Zaid, Hadeel Abdollah Alrukban

Hum Genomics· September 2024

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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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Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review.
Hadeel Alrukban, David Chitayat

Appl Clin Genet· April 2018

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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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Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Penelope E Bonnen, John W Yarham, Arnaud Besse, Ping Wu, Eissa A Faqeih, Alrukban Hadeel

Am J Hum Genet· September 2013

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A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
Ranad Shaheen, Shinu Ansari, Muneera J Alshammari, Hisham Alkhalidi, Hadeel Alrukban

J Med Genet· July 2013

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