12 results on '"Grammatico, Barbara"'
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2. Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
3. Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin
4. Two unrelated cases with biallelic CHEK2variants:a novel condition with constitutional chromosomal instability?
5. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
6. Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome
7. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies
8. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report
9. Autosomal dominant retinitis pigmentosa associated with Arg-135-Trp point mutation of rhodopsin gene: clinical features and longitudinal observations
10. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
11. Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin
12. A deletion 3' to the PAX6 gene in familial aniridia cases.
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