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Miss Manar Alfaham

  1. Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets

    BinEssa, H. A., Zou, M., Al-Enezi, A. F., Alomrani, B., Al-Faham, M. S. A., Al-Rijjal, R. A., Meyer, B. F. & Shi, Y., 1 Aug 2019, In: Bone. 125, p. 186-193

    Research output: Contribution to journalArticlepeer-review

  2. Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis

    Zou, M., Alzahrani, A. S., Al-Odaib, A., Alqahtani, M. A., Babiker, O., Al-Rijjal, R. A., BinEssa, H. A., Kattan, W. E., Al-Enezi, A. F., Al Qarni, A., Al-Faham, M. S. A., Baitei, E. Y., Alsagheir, A., Meyer, B. F. & Shi, Y., May 2018, In: The Journal of clinical endocrinology and metabolism. 103, 5, p. 1889-1898 10 p.

    Research output: Contribution to journalArticlepeer-review

  3. Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

    Acar, S., Bin Essai, H. A., Demir, K., Al-Rijjal, R. A., Zou, M., Catli, G., Anik, A., Al-Enezi, A. F., Ozisik, S., Al-Faham, M. S. A., Abaci, A., Dundar, B., Kattan, W. E., Alsagob, M., Kavukcu, S., Tamimi, H. E., Meyer, B. F., Bober, E. & Shi, Y., 5 Mar 2018, In: PLoS ONE. 13, 3, p. e0193388

    Research output: Contribution to journalArticlepeer-review

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