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Your search keyword '"Ferrero, Giovanni Battista"' showing total 14 results

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14 results on '"Ferrero, Giovanni Battista"'

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1. Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

2. Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot

3. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

4. A multimethod approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

5. Hair as a diagnostic tool in dysmorphology

6. 'Balanced' complex rearrangements: how many are really balanced?

7. Mapping the human genetic architecture of COVID-19

8. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

9. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

10. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

11. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

12. Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

13. Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

14. Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair

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