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2. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

3. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

4. Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

5. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

7. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

8. Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

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

10. Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

11. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

13. Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review

14. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

15. Polygenic burden in focal and generalized epilepsies

20. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

21. The landscape of epilepsy-related GATOR1 variants (vol 21, pg 398, 2019)

22. De Novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism

23. Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

24. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

25. The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield

26. Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases

27. R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome

28. OC.13.4 HIGH FREQUENCY OF SOMATIC APC MOSAICISM IN PATIENTS WITH GENETICALLY UNSOLVED COLORECTAL ADENOMATOUS POLYPOSIS

29. Linkage exclusion in Italian families with hereditary Essential Tremor

30. Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force

33. Exploiting whole-exome sequencing data to identify copy number variants

34. PRIMA1 mutation: A new cause of nocturnal frontal lobe epilepsy

35. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

36. Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

37. FA2H-related disorders: A novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

41. HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

44. Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2

45. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

46. Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report

48. Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

49. Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?

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