36 results on '"Herman, Isabella"'
Search Results
2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
3. A Comprehensive Examination of Clinical Characteristics and Determinants of Long-Term Outcomes in Pediatric Cerebral Sinus Venous Thrombosis
4. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
5. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
6. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
7. Implementation of a Pediatric Neurocritical Care Program for Children With Status Epilepticus: Adherence to Continuous Electroencephalogram Monitoring
8. A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
9. Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
10. El‐Hattab‐Alkuraya syndrome caused by biallelicWDR45Bpathogenic variants: Further delineation of the phenotype and genotype
11. Centers for Mendelian Genomics: A decade of facilitating gene discovery
12. Novel RETREG1 (FAM134B)founder allele is linked to HSAN2B and renal disease in a Turkish family
13. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy
14. Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
15. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
16. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant
17. Clinical Profile and Long-Term Outcome in Neonatal Cerebral Sinus Venous Thrombosis
18. Clinical and Neuroimaging Features of Peroxisomal Disorders
19. Risk of sudden cardiac death in EXOSC5‐related disease
20. A systematic-review of olfactory deficits in neurodevelopmental disorders: From mouse to human
21. Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
22. Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy
23. Bi-allelic variants in the ectonucleotidase ENTPD1 cause a complex neurological disease consisting of intellectual disability, brain abnormalities, and spastic paraplegia (2093)
24. Bi-allelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with epilepsy (4453)
25. A de novo heterozygous rare variant in SV2A predisposes to epilepsy and levetiracetam-induced refractory status epilepticus (2089)
26. Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, dysmorphism, and musculoskeletal abnormalities (2101)
27. Apneic Seizures in a Child with Achondroplasia
28. A de novo heterozygous rare variant in SV2A causes epilepsy and levetiracetam-induced drug-resistant status epilepticus
29. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease
30. Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
31. 1223: PEDIATRIC NEUROINTENSIVE CARE UNIT BOOSTS ADHERENCE TO CONTINUOUS EEG BEST-CARE PRACTICES
32. Expanded newborn screening (NBS) leads to early diagnosis and treatment in children with Cobalamin C disease (CblC) and aids in identifying and treating presymptomatic affected family members (P4.6-068)
33. POU6f1 Mediates Neuropeptide-Dependent Plasticity in the Adult Brain
34. The Utility of Whole Exome Sequencing in Pediatric Neuromuscular Disease at Texas Children’s Hospital (P3.202)
35. Developmental broadening of inhibitory sensory maps
36. A cholinergic basal forebrain feeding circuit modulates appetite suppression
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