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Your search keyword '"Palmer, Christina G.S."' showing total 27 results

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27 results on '"Palmer, Christina G.S."'

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1. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

2. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

3. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

4. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

5. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

6. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

7. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

8. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

9. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

10. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

11. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

13. HLA-B maternal-fetal genotype matching increases risk of schizophrenia

14. RHD maternal-fetal genotype incompatibility increases schizophrenia susceptibility

15. A genomewide scan for loci involved in attention-deficit/ hyperactivity disorder

17. Wisconsin cystic fibrosis chest radiograph scoring system

18. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing.

19. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.

20. Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.

21. Detection of Intergenerational Genetic Effects with Application to HLA-B Matching as a Risk Factor for Schizophrenia.

23. Allowing for Missing Data at Highly Polymorphic Genes when Testing for Maternal, Offspring and Maternal-Fetal Genotype Incompatibility Effects.

24. Genetic Testing and the Early Hearing Detection and Intervention Process.

27. Corrigendum to eP296-The yield of thorough record review in the Undiagnosed Diseases Network, Volume 132, Supplement 1, April 2021, Page S187, https://doi.org/10.1016/S1096-7192(21)00378-4.

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