46 results on '"Martin, Donna M"'
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2. De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-Related Neurodevelopmental Disorder (GARND)
3. Chromatin remodeler Chd7 regulates photoreceptor development and outer segment length
4. Epigenetic mechanisms of inner ear development
5. Gender Differences in Endowed Chairs in Pediatrics
6. Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion
7. Challenges of variant reinterpretation: Opinions of stakeholders and need for guidelines
8. Corrigendum to “Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice” [Mech. Dev. 129 (9–12) (2012) 308–23 (PMID 22705977)]
9. GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function
10. Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning
11. Development and implementation of an electronic medical record module to track genetic testing results
12. Erratum to “The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder” [Dev. Cognit. Neurosci. 24 April (2017) 12–20]
13. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
14. Neural crest contributions to the ear: Implications for congenital hearing disorders
15. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology
16. Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair
17. Atopic disorders in CHARGE syndrome: A retrospective study and literature review
18. Chromatin in nervous system development and disease
19. Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers
20. The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder
21. It’s All in the Delivery: Improving AAV Transfection Efficiency with Exosomes
22. Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
23. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
24. A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
25. Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait
26. C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation
27. Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency
28. The impact of serotonin transporter genotype on default network connectivity in children and adolescents with autism spectrum disorders
29. Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development
30. Delayed fusion and altered gene expression contribute to semicircular canal defects in Chd7 deficient mice
31. Have You Heard? Viral-Mediated Gene Therapy Restores Hearing
32. The impact of serotonin transporter (5-HTTLPR) genotype on the development of resting-state functional connectivity in children and adolescents: A preliminary report
33. Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2
34. Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome
35. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
36. Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus
37. Genetics of subthalamic nucleus in development and disease
38. Brain glutamine by MRS in a patient with urea cycle disorder and coma
39. PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain
40. Pitx2 Distinguishes Subtypes of Terminally Differentiated Neurons in the Developing Mouse Neuroepithelium
41. Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*
42. IGF receptor function and regulation in autocrine human neuroblastoma cell growth
43. Effects of serum and insulin-like growth factors on human neuroblastoma cell growth
44. PKC Activity and PKC-α mRNA Content Are Reduced in Serum-Deprived Human Neuroblastoma Cells without Concomitant Induction of Differentiation
45. Gene expression of the insulin-like growth factors and their receptors in cultured human retinal pigment epithelial cells
46. Fluorescence and kinetic properties of Ru(III) (NH3)5 modified transferrin
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