325 results on '"Lalatta, Faustina"'
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2. Prosodic Features of Maternal Input to Children with Sex Chromosome Trisomies
3. Preverbal Skills in 8-Month-Old Children with Sex Chromosome Trisomies
4. Maternal Input to Children with Sex Chromosome Trisomies
5. Prenatal Counselling and Management in the Early Neonatal Period
6. Vocal and Gestural Productions of 24-Month-Old Children with Sex Chromosome Trisomies
7. Before Is Better: Innovative Multidisciplinary Preconception Care in Different Clinical Contexts
8. Prenatal Counselling and Management in the Early Neonatal Period
9. STAR syndrome plus: The first description of a female patient with the lethal form
10. Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies
11. La diagnosi prenatale della sindrome di Klinefelter
12. Prenatal upper-limb mesomelia and 2q31.1 microdeletions affecting the regulatory genome
13. Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review
14. Language Development in the Second Year of Life: The Case of Children with Sex Chromosome Trisomies Diagnosed before Birth
15. Language Development in Sex Chromosome Trisomies: Developmental Profiles at 2 and 4 Years of Age, and Predictive Measures
16. An analysis of decision making in cord blood donation through a participatory approach
17. Family burden of children suffering from epidermolysis bullosa
18. Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies
19. Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype–phenotype analysis
20. Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
21. Response to “Prenatal Genetic Counseling in Klinefelter Syndrome: Comments on the Article by Lalatta and Tint [2013] and a Proposal of a New Approach” by Pimpolari et al.
22. Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
23. Prenatal and postnatal findings in five cases of Fryns syndrome
24. Genetic screening in 2,710 infertile candidate couples for assisted reproductive techniques: results of application of Italian guidelines for the appropriate use of genetic tests
25. Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis
26. Unusual prenatal presentation of Rubinstein–Taybi syndrome: A case report
27. “Your son has Klinefelter syndrome.” How parents react to a prenatal diagnosis
28. Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome
29. Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?
30. Healthcare transition in patients with rare genetic disorders with and without developmental disability: Neurofibromatosis 1 and williams–beuren syndrome
31. Prevalence of diabetes and pre-diabetes in a cohort of Italian young adults with Williams syndrome
32. Authorʼs reply regarding “Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome”
33. Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis
34. Children's Behavior and Maternal Parenting Stress in Young Children With Sex Chromosome Trisomies.
35. Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome
36. Congenital diaphragmatic hernia as prenatal presentation of Apert syndrome
37. True hemifacial microsomia and hemimandibular hypoplasia with condylar-coronoid collapse: Diagnostic and prognostic differences
38. An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests
39. Clinical follow-up of young adults affected by Williams syndrome: Experience of 45 Italian patients
40. Preverbal skills in 8-month-old children with sex chromosome trisomies
41. Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
42. De novo balanced chromosome rearrangements in prenatal diagnosis
43. Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally
44. Association of Syndromic Mental Retardation With an Xq12q13.1 Duplication Encompassing the Oligophrenin 1 Gene
45. Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
46. Norman-Roberts syndrome: characterization of the phenotype in early fetal life
47. Limited value of echography to predict true fetal mosaicism for trisomy 12
48. Three cases with de novo 6q imbalance and variable prenatal phenotype
49. Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation
50. The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration
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