48 results on '"Baldinotti, Fulvia"'
Search Results
2. In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development
3. Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review.
4. Clinical characteristics and genetic analysis in women with premature ovarian insufficiency
5. A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development
6. Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant
7. Identification of GATA3 pathogenic variants in two patients with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome
8. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective
9. Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review
10. Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex Development
11. IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene
12. Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype
13. NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
14. Mutations of Fas (APO-1/CD95) and p53 Genes in Nonmelanoma Skin Cancer
15. Alterations of Fas (APO-1/CD 95) gene and its relationship with p53 in non small cell lung cancer
16. A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
17. Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related toDHH
18. Adolescent Gynecomastia due to Minimal Androgen Resistance Syndrome: A Case Report and Literature Review
19. Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1Loss-of-Function Variant
20. Premature ovarian failure and fragile X premutation: a study on 45 women
21. A Single mtDNA Deletion in Association with a LMNAGene New Frameshift Variant: A Case Report
22. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
23. NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes
24. Paternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review
25. Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
26. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
27. Do the Heterozygous Carriers of a CYP24A1Mutation Display a Different Biochemical Phenotype Than Wild Types?
28. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort
29. Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome
30. Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant
31. A new truncating MPZ mutation associated with a very mild CMT1 B phenotype
32. Identification of three novel mutations in the CHD7 gene in patients with clinical signs of typical or atypical CHARGE syndrome
33. Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
34. NR5A1 Gene Mutations: Clinical, Endocrine and Genetic Features in Two Girls with 46,XY Disorder of Sex Development
35. Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: Prevalence of a novel mutation
36. Cx26 Gene Mutations in Idiopathic Progressive Hearing Loss
37. HPLC assay for guanidinoacetate methyltransferase
38. Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man
39. Regulation of telomerase and its hTERT messenger in colorectal cancer
40. Electrodiagnostic Evidence of Phrenic Nerve Demyelination in Charcot-Marie-Tooth Disease 1A
41. Response to local dihydrotestosterone treatment in a patient with partial androgen‐insensitivity syndrome due to a novel mutation in the androgen receptor gene
42. The feline lymphoid cell line MBM and its use for feline immunodeficiency virus isolation and quantitation
43. Feline Immunodeficiency Virus Infection of Macrophages:In Vitroandin VivoInhibition by Dideoxycytidine-5′-triphosphate-Loaded Erythrocytes
44. Simple in vitro methods for titrating Feline Immunodeficiency Virus (FIV) and FIV neutralizing antibodies
45. Prevalence of feline immunodeficiency virus and other retroviral infections in sick cats in Italy
46. Alterations of T-Cell Functions During Friend Leukemia Complex Infection: Defective Signal Transduction?
47. Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
48. Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.
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