822 results on '"Riley, Lisa"'
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2. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
3. Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
4. LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
5. First impressions: A preliminary study of domestic dog puppies’ responses to verbal cues issued by an artificial agent
6. Behavioural biology and zoo animal welfare
7. The behavioural biology of primates
8. Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
9. Bark to the future: The welfare of domestic dogs during interaction with a positively reinforcing artificial agent
10. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
11. FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
12. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease
13. The nocturnal activity of a commonly housed rodent: How African pygmy dormice (Graphiurus murinus) respond to an enriched environment?
14. Domestic dogs respond correctly to verbal cues issued by an artificial agent
15. A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome
16. A founder variant expands the phenotype of WNT7B‐related PDAC syndrome
17. Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child
18. EPG5 -Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
19. Tread carefully: A functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing
20. Programme Level Social Learning in great apes : cognitive and welfare perspectives
21. Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon
22. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
23. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
24. Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
25. Five ways to wellbeing at the zoo: improving human health and connection to nature
26. To pace or not to pace? A review of what abnormal repetitive behavior tells us about zoo animal management
27. You Can't Always Get What You Want. Infant Care Preferences and Use among Employed Mothers
28. LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure
29. Family Responsive Policies and Employee Retention Following Childbirth
30. MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
31. Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
32. What’s new from the zoo? An analysis of ten years of zoo-themed research output
33. Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia
34. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
35. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
36. Expanding the Allelic Heterogeneity ofANO10-Associated Autosomal Recessive Cerebellar Ataxia
37. The Societal Value of the Modern Zoo: A Commentary on How Zoos Can Positively Impact on Human Populations Locally and Globally
38. LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
39. Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine
40. What’s Black and White and Pink All Over? Lesser Flamingo Nocturnal Behaviour Captured by Remote Cameras
41. Expanding the role of the future zoo: Wellbeing should become the fifth aim for modern zoos
42. Taking a customer‐centric view of discounting
43. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
44. Moving forward with zoo welfare assessment: A response to Cooke (2017)
45. EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders
46. Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans
47. Presenting The Grocer Drink Awards
48. Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability
49. Contributors
50. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
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