165 results on '"Mancini, Grazia M.S."'
Search Results
2. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
3. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing
4. Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist
5. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
6. Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia
7. Neuro-MIG: A European network on brain malformations
8. Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis
9. CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
10. Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis
11. Impaired Reorganization of Centrosome Structure Underlies Human Infantile Dilated Cardiomyopathy
12. Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals
13. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
14. Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
15. Expanding the Allelic Heterogeneity ofANO10-Associated Autosomal Recessive Cerebellar Ataxia
16. SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
17. RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants
18. De novo variants in ATP2B1 lead to neurodevelopmental delay
19. Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia.
20. Neurological findings in incontinentia pigmenti; a review
21. Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
22. A novel family illustrating the mild phenotypic spectrum of TUBB2B variants
23. Is hearing loss a feature of Joubert syndrome, a ciliopathy?
24. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death
25. SYNGAP1 encephalopathy
26. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
27. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
28. DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands
29. A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis
30. Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia
31. Homozygous nonsense mutations in KIAA 1279 are associated with malformations of the central and enteric nervous systems
32. Novel no-stop FLNA mutation causes multi-organ involvement in males
33. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome
34. Phenotypic Variability of Atypical 22q11.2 Deletions Not Including TBX1
35. Asymmetric Polymicrogyria and Periventricular Nodular Heterotopia Due to Mutation in ARX†‡
36. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family
37. TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
38. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
39. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
40. Germline BRAF Mutations in Noonan, LEOPARD, and Cardiofaciocutaneous Syndromes: Molecular Diversity and Associated Phenotypic Spectrum
41. Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1
42. Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated
43. Re: Polymicrogyria versus pachygyria in 22q11 microdeletion
44. Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes
45. Chapter 5 Lysosomal storage diseases
46. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
47. Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia
48. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
49. Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features
50. Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.