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Huda A. BinEssa
Huda A. BinEssa
Biology
Genetics
RNA splicing
Exon
Vitamin D-dependent rickets
6
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Insights of Non-canonical Splice-site Variants on RNA Splicing in Patients with Congenital Hypothyroidism.
2021
The Journal of Clinical Endocrinology and Metabolism
Najla Albader
Minjing Zou
Huda A. BinEssa
Saba Abdi
Anwar F. Al-Enezi
Brian F. Meyer
Ali S. Alzahrani
Yufei Shi
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Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
2021
Orphanet Journal of Rare Diseases
Zayed S. Alzayed
Roua A. Al-Rijjal
Lamya Al-Ghofaili
Huda A. BinEssa
Rajeev Pant
Anwar M. Al-Rabiah
Thamer S. Alhussainan
Minjing Zou
Brian F. Meyer
Yufei Shi
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Mutation of SGK3, a novel regulator of renal phosphate transport, causes autosomal dominant hypophosphatemic Rickets
2021
Ayşe Nurcan Cebeci
Minjing Zou
Huda A. BinEssa
Ali S. Alzahrani
Roua A l-Rijjal
Anwar F. Al-Enezi
Futwan Al-Mohanna
Etienne Cavalier
Brian F. Meyer
Yufei Shi
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Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error
2020
Frontiers in Genetics
Minjing Zou
Ayla Güven
Huda A. BinEssa
Roua A. Al-Rijjal
Brian F. Meyer
Ali S. Alzahrani
Yufei Shi
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Inside the USCAP Journals
2015
Laboratory Investigation
Minjing Zou
Essa Y. Baitei
Roua A. Al-Rijjal
Ranjit S. Parhar
Futwan Al-Mohanna
Shioko Kimura
Catrin Pritchard
Huda A. BinEssa
Azizah A Alanazi
Ali S. Alzahrani
Mohammed Akhtar
Abdullah M. Assiri
Brian F. Meyer
Yufei Shi
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