36 results on '"Ferrero, Giovanni Battista"'
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2. Occult ischemic bone lesions in children with sickle cell disease: A study of prevalence
3. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
4. Successful treatment with MEK ‐inhibitor in a patient withNRAS‐related cutaneous skeletal hypophosphatemia syndrome
5. Clinical and molecular characterization of patients affected by Beckwith‐Wiedemann spectrum conceived through assisted reproduction techniques
6. Obituary for Prof. Alberto Ponzone
7. Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies
8. Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA ‐related overgrowth spectrum
9. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
10. Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question
11. Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review
12. A new case of Smith‐Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
13. Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome (SOX5)
14. Chronic subdural hematoma: A previously unreported life‐threatening complication in adult with Sotos syndrome
15. Cover Image, Volume 179A, Number 9, September 2019
16. Phenotype evolution and health issues of adults with Beckwith‐Wiedemann syndrome
17. Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome
18. Constitutional bone impairment in Noonan syndrome
19. Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome
20. Cover Image, Volume 170A, Number 7, July 2016
21. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
22. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
23. Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation
24. Periventricular nodular heterotopia in Smith‐Magenis syndrome
25. Comment on “Prenatal diagnosis and prognosis in Noonan syndrome”
26. Prevalence of beckwith–wiedemann syndrome in North West of Italy
27. Progressive extreme heterotopic calcification
28. Case 1: An infant with heart failure (Case Presentation)
29. Case 1: An infant with heart failure (Discussion and Diagnosis)
30. Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation
31. Truncus arteriosus and isochromosome 8q
32. Myhre's syndrome in a girl with normal intelligence
33. Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes theZFHX1B gene
34. Malformations following methimazole exposure in utero: An open issue
35. Pachygyria and cerebellar hypoplasia in Goldberg–Shprintzen syndrome
36. Oral, facial, digital, vertebral anomalies with psychomotor delay: A mild form of OFD type Gabrielli?
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