154 results on '"Ladda, Roger L."'
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2. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
3. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
4. Redefining the Etiologic Landscape of Cerebellar Malformations
5. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
6. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
7. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
8. Decrease in Epidermal Growth Factor Receptor Levels and Production of Material Enhancing Epidermal Growth Factor Binding Accompany the Temperature-Dependent Changes from Normal to Transformed Phenotype
9. Quantitation of Phosphatidylcholine Secretion in Lung Slices and Primary Cultures of Rat Lung Cells
10. Introduction of a Heterologous Nucleus into Enucleated Cytoplasms of Cultured Mouse L-Cells
11. Cytogenetic Engineering in Vivo: Restoration of Biologic Complement Activity to C5-Deficient Mice by Intravenous Inoculation of Hybrid Cells
12. Absence of Membrane-Bound Elementary Particles Following Negative Staining of a Respiratory-Deficient ρ - 1 Strain of Baker's Yeast
13. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)
14. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
15. Recessive mutations in the gene encoding the tight junction protein occluding cause band-like calcification with simplified gyration and polymicrogyria
16. Genotype–phenotype analysis of 4q deletion syndrome: Proposal of a critical region
17. The frequency of uniparental disomy in Prader-Willi syndrome: implications for molecular diagnosis
18. HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
19. PIGGvariant pathogenicity assessment reveals characteristic features within 19 families
20. An autosomal dominant neurological disorder caused by de novo variants in FAR1resulting in uncontrolled synthesis of ether lipids
21. Trisomy 12 and Triploidy in an Infant: An Unusual Case of Diploid/Triploid Mixoploidy
22. Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A
23. Effect of differentiation inducers on growth characteristics of human glioma cell lines
24. Freedom of Information
25. “Mosaic trachea” in a child with trisomy 9 mosaicism
26. 60 - Trisomy 12 and Triploidy in an Infant: An Unusual Case of Diploid/Triploid Mixoploidy
27. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
28. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
29. Malformations in a child with dup (7 pter-p15.1) and del (7 q36-qter) as a result of familial pericentric inversion
30. Duplication of the distal long arm of chromosome 15: Report of three new patients and review of the literature
31. Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutantColoboma
32. Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia
33. Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
34. A new missense mutation, Arg719Gln, in the β-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy
35. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome
36. Clinical and molecular analyses of deletion 3p25-pter syndrome
37. Marden-Walker phenotype: Spectrum of variability in three infants
38. Somatic cell mosaicism: Another source of phenotypic heterogeneity in nuclear families with osteogenesis imperfecta
39. Cutaneous scar at anterior hair line in mother and child with associated frontal bone defect in child
40. Reply to Dr. Rivera
41. Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations
42. Dexamethasone Receptor Levels in Palatal and Lung Fibroblasts of Adult A/J and C57BL/6J Mice: Relationship to Glucocorticoid-Induced Cleft Palate
43. Neurologic manifestations in 18q- syndrome
44. Three Single Base Mutations in Type III Procollagen Gene That Prevent Correct RNA Splicing in Variants of Ehlers-Danlos Syndrome IV
45. “Marden-Walker Syndrome”: Neuropathologic Findings in Two Siblings
46. Craniosynostosis Associated With Limb Reduction Malformations and Cleft Lip/Palate: A Distinct Syndrome.
47. Transforming growth factors released from Kirsten sarcoma virus transformed cells do not compete for epidermal growth factor membrane receptors.
48. Chromosomal Abnormalities Associated with Infertility.
49. Malformations in a child with dup (7 pter-p15.1) and del (7 q36-qter) as a result of familial pericentric inversion.
50. Chromosomal mosaicism in Down's syndrome: a diagnostic challenge.
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