9 results on '"Otaify, Ghada A."'
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2. A novel variant inGNPNAT1gene causing a spondylo‐epi‐metaphyseal dysplasia resemblingPGM3—Desbuquois like dysplasia
3. Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
4. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum
5. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion
6. Molecular and clinical analysis ofALPLin a cohort of patients with suspicion of Hypophosphatasia
7. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations
8. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion.
9. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
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