| scholarly article | Q13442814 |
| P50 | author | Julia Wattacheril | Q90350006 |
| Joel E Lavine | Q92781513 | ||
| P2093 | author name string | David B Goldstein | |
| Mark Fishbein | |||
| Cynthia Behling | |||
| Saeed Mohammad | |||
| Patrick R Shea | |||
| Nicholas Stong | |||
| Katherine P Yates | |||
| Laura A Wilson | |||
| Vimla Aggarwal | |||
| Joy Ito | |||
| P2860 | cites work | Genetic diagnosis by whole exome capture and massively parallel DNA sequencing | Q22066282 |
| Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study | Q24679692 | ||
| Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease | Q28301461 | ||
| Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 | Q30444380 | ||
| Wilson disease: clinical presentation, treatment, and survival | Q33383733 | ||
| Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation | Q33558941 | ||
| Histological demonstration of copper and copper-associated protein in chronic liver diseases | Q33846528 | ||
| Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation | Q34254942 | ||
| An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome | Q34254955 | ||
| His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype | Q34487420 | ||
| Diagnosis and treatment of Wilson disease: an update | Q34782089 | ||
| Whole-genome sequencing for optimized patient management | Q35857612 | ||
| Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. | Q35910407 | ||
| Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease | Q36218689 | ||
| Prevalence of fatty liver in children and adolescents. | Q36610508 | ||
| Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios | Q36686140 | ||
| Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. | Q36851455 | ||
| Clinical exome sequencing: results from 2819 samples reflecting 1000 families. | Q37599237 | ||
| The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B. | Q38358304 | ||
| The Diagnosis and Management of Nonalcoholic Fatty Liver Disease: Practice Guidance from the American Association for the Study of Liver Diseases. | Q38676257 | ||
| A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology | Q38883296 | ||
| Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults | Q42678508 | ||
| Wilson's disease in children: 37-year experience and revised King's score for liver transplantation | Q46388884 | ||
| Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study | Q47124663 | ||
| Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study | Q47200770 | ||
| The Wilson disease gene: spectrum of mutations and their consequences | Q48075338 | ||
| Cause, Pathogenesis, and Treatment of Nonalcoholic Steatohepatitis | Q49797701 | ||
| The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 | ||
| Wilson's disease in patients presenting with liver disease: a diagnostic challenge. | Q52261709 | ||
| Wilson disease | Q85213537 | ||
| Targeted treatment of migrating partial seizures of infancy with quinidine | Q87416228 | ||
| NASPGHAN Clinical Practice Guideline for the Diagnosis and Treatment of Nonalcoholic Fatty Liver Disease in Children: Recommendations from the Expert Committee on NAFLD (ECON) and the North American Society of Pediatric Gastroenterology, Hepatology | Q89927147 | ||
| P433 | issue | 5 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Wilson disease | Q117121 |
| fatty liver disease | Q6058862 | ||
| teenager | Q1492760 | ||
| metabolic dysfunction–associated steatotic liver disease | Q1546498 | ||
| P304 | page(s) | a003087 | |
| P577 | publication date | 2018-10-01 | |
| P1433 | published in | Cold Spring Harbor molecular case studies | Q27726567 |
| P1476 | title | Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease | |
| P478 | volume | 4 |
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