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Anwar F. Al-Enezi
Anwar F. Al-Enezi
Genetics
Endocrinology
Internal medicine
Biology
Splice site mutation
4
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11
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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 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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Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
2019
Bone
Huda BinEssa
Minjing Zou
Anwar F. Al-Enezi
Basma Alomrani
Manar S. A. Al-Faham
Roua A. Al-Rijjal
Brian F. Meyer
Yufei Shi
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Citations (11)
NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE SITE MUTATION
2019
Endocrine Practice
Korcan Demir
Minjing Zou
Roua A. Al-Rijjal
Huda BinEssa
Sezer Acar
Erdem Durmaz
Gonul Catli
Anwar F. Al-Enezi
Ali S. Alzahrani
Brian F. Meyer
Yufei Shi
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