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40 results on '"Rodan, Lance H."'

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1. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

2. Loss-of-function in RBBP5results 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 SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities

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

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

7. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

8. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

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

10. Variants in PRKAR1Bcause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

11. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

12. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

13. RCL1copy number variants are associated with a range of neuropsychiatric phenotypes

14. An autosomal dominant neurological disorder caused by de novo variants in FAR1resulting in uncontrolled synthesis of ether lipids

15. De novo and inherited variants in ZNF292underlie a neurodevelopmental disorder with features of autism spectrum disorder

16. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

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

18. Transient regional cerebral hypoperfusion during a paroxysmal hemiplegic event in GLUT1 deficiency syndrome.

19. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

20. Acute Illness Protocol for Urea Cycle Disorders

21. Acute Illness Protocol for Maple Syrup Urine Disease

22. A de novomissense variant in EZH1associated with developmental delay exhibits functional deficits in Drosophila melanogaster

23. De novo variants in MRTFBhave gain-of-function activity in Drosophilaand are associated with a novel neurodevelopmental phenotype with dysmorphic features

24. Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders

25. Acute Illness Protocol for Organic Acidemias

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

27. Expansion of phenotype and genotypic data in CRB2-related syndrome

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

31. A Citywide Prehospital Protocol Increases Access to Stroke Thrombolysis in Toronto

32. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1resulting in uncontrolled synthesis of ether lipids

33. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

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