18 results on '"Morrow, Michelle"'
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2. Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
3. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
4. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
5. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
6. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
7. CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
8. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
9. MGA-related syndrome: A proposed novel disorder
10. Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
11. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
12. P829: Comparative medical genetics to facilitate the interpretation of rare missense variation
13. P014: Multiple cases of mosaic X-linked adrenoleukodystrophy in males identified through newborn screening
14. P583: Four cases of mosaic triploidy identified by trio exome sequencing
15. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
16. CBFβ is critical for AML1-ETO and TEL-AML1 activity
17. TEL-AML1 promotes development of specific hematopoietic lineages consistent with preleukemic activity
18. The effects of diet composition and ration on biotransformation enzymes and stress parameters in rainbow trout, Oncorhynchus mykiss
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