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606 results on '"A. Salpietro"'

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2. Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

3. De novo variants in DENND5B cause a neurodevelopmental disorder

4. Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

5. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

6. Corrigendum: Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

7. Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

8. Neuroimaging in PRUNE1 syndrome: a mini-review of the literature

9. Neuroimaging features of WOREE syndrome: a mini-review of the literature

11. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

12. Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder

14. A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers

15. A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in children

16. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

17. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

18. BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

20. Novel biallelic variants expand the phenotype of NAA20 ‐related syndrome

21. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

23. Introduction to Allergy

24. Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

25. Elucidating the clinical and molecular spectrum ofSMARCC2-associated NDD in a cohort of 65 affected individuals

26. Trends in chronic hepatitis B virus infection in Italy over a 10-year period: Clues from the nationwide PITER and MASTER cohorts toward elimination

27. CARD11 dominant negative mutation leads to altered human Natural Killer cell homeostasis

28. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

29. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

30. Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability

32. Epilepsy in Joubert Syndrome: A Still Few Explored Matter

33. Radiological Features of Joubert's Syndrome

35. A Brief Focus on Joubert Syndrome and Related Acute Complications

36. Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

37. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

38. Meckel Syndrome: A Clinical and Molecular Overview

39. Age-Related Neurodevelopmental Features in Children with Joubert Syndrome

40. Alström's Syndrome: Neurological Manifestations and Genetics

41. Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics

42. Joubert Syndrome with Oral-Facial-Digital Defect (JS-OFD): A Brief Overview on Clinics and Genetics

43. Ciliopathies: Genetic Counseling

44. Hydranencephaly in CENPJ-related Seckel syndrome

47. Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series

49. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

50. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model

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