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22 results on '"Pallais, J. Carl"'

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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. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

4. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

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

6. De novo variants in DENND5B cause a neurodevelopmental disorder

7. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

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

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

10. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

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

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

13. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

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

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

16. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

17. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

18. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

19. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

20. One is the loneliest number: genotypic matchmaking using the electronic health record

22. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

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