22 results on '"Grammatico, Barbara"'
Search Results
2. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene
3. Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
4. Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman
5. Syndromic True Hermaphroditism Due to an R-spondin1 (RSPO1) Homozygous Mutation
6. Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin
7. Two unrelated cases with biallelic CHEK2variants:a novel condition with constitutional chromosomal instability?
8. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement
9. Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness
10. Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
11. Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome
12. An Additional Patient With 3q27.3 Microdeletion Syndrome
13. A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies
14. 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
15. Autosomal dominant retinitis pigmentosa associated with Arg-135-Trp point mutation of rhodopsin gene: clinical features and longitudinal observations
16. An Additional Patient With 3q27.3 Microdeletion Syndrome.
17. Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
18. Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
19. Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene
20. Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin
21. Norrie‐Warburg syndrome: Two novel mutations in patients with classical clinical phenotype
22. A deletion 3' to the PAX6 gene in familial aniridia cases.
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