Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]
Dev Med Child NeurolThis study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM +3 more
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Rewiring ALS by modulating the autophagy receptor SQSTM1. [PDF]
Stem Cell ReportsAubry L, Korolchuk VI, Sarkar S.
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Retinitis pigmentosa and sensorineural deafness associated with a <i>de novo DHX16</i> mutation: case report. [PDF]
Front GenetWang L +7 more
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A case of central sleep apnea in an adult with agenesis of the corpus callosum. [PDF]
Respir Med Case RepCabriada-Nuño V +3 more
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Spinal anesthesia for urgent cesarean section in a parturient with RYR1 mutation-associated malignant hyperthermia susceptibility: a case report. [PDF]
Matern Health Neonatol PerinatolAbaalkhayl M.
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Unilateral Retinitis Pigmentosa, Glial Tissue Abnormality, and Microphthalmia in a Young Female Patient: A Case Report. [PDF]
CureusBivona L +4 more
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Review Article: Overview of Clinical Genetics of Diabetes Mellitus. [PDF]
Genes (Basel)Asamoah A, Ahima RS.
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Circadian Rhythm and Psychiatric Features in Wolfram Syndrome: Toward Chrono Diagnosis and Chronotherapy. [PDF]
Diagnostics (Basel)Esteban-Bueno G +4 more
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Association Between Visceral Obesity Index and Diabetes: A Systematic Review and Meta-analysis.
J Clin Endocrinol MetabDeng R +15 more
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