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34 results on '"MARI, F."'

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1. Mapping the human genetic architecture of COVID-19

2. C9orf72 intermediate repeats confer genetic risk for severe covid-19 pneumonia independently of age

3. Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

4. Protective role of a tmprss2 variant on severe covid-19 outcome in young males and elderly women

5. ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

6. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

7. Comparison of three PD-L1 immunohistochemical assays in head and neck squamous cell carcinoma (HNSCC)

8. Clinical and molecular characterization of COVID-19 hospitalized patients

10. Alport syndrome: impact of digenic inheritance in patients management

11. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

12. Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

13. Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families

14. Assessment and Initial Management of Infertility

15. A 2.6 Mb deletion of 6q24.3-25.1 in a patient with growth failure, cardiac septal defect, thin upperlip and asymmetric dysmorphic ears

16. Germline mosaicism in Rett syndrome identified by prenatal diagnosis

17. [Takayasu disease in the genesis of cerebrovascular insufficiency. Description and considerations of a clinical case]

18. [Subrenal coarctation of the aorta. Presentation of a clinical case]

19. Genetic mechanisms of critical illness in COVID-19

20. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

21. Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

22. Determination of endogenous GHB levels in chest and pubic hair

23. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

24. Visual impairment in FOXG1-mutated individuals and mice

25. Phosphatase and Tensin Homolog (PTEN) Gene Mutations and Autism: Literature Review and a Case Report of a Patient With Cowden Syndrome, Autistic Disorder, and Epilepsy

26. Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

27. Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

28. 9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

29. Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype

30. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

31. Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria

32. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature

33. Thin glomerular basement membrane disease: clinical significance of a morphological diagnosis--a collaborative study of the Italian Renal Immunopathology Group

34. Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles

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