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Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Human mutation·2003

Optimized production of high-titer recombinant adeno-associated virus in roller bottles.

BioTechniques·2003

Chromosomal localization and genomic organization of the human Linker for Activation of T cells (LAT) gene.

Cytogenetic and genome research·2002

Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13).

Genetic counseling (Geneva, Switzerland)·2002

Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region.

Genetic counseling (Geneva, Switzerland)·2002

Exploring maximality criteria of cardiopulmonary exercise testing in healthy subjects and patients with chronic respiratory disease: a practical clinical framework.

Respiration; international review of thoracic diseases·2026

Diagnostic Performance and Safety Profile of Shape-sensing Robotic-assisted Bronchoscopy in Peripheral Pulmonary Lesions: A Systematic Review and Meta-Analysis.

Respiration; international review of thoracic diseases·2026

Survival in patients with activity-related dyspnea. A retrospective cohort study.

Respiration; international review of thoracic diseases·2026

Emerging respiratory infectious diseases: Clinical aspects for rapid identification and management.

Respiration; international review of thoracic diseases·2026

The Benign Biopsy Paradox: False Reassurance and Diagnostic Overreach in Peripheral Pulmonary Lesions.

Respiration; international review of thoracic diseases·2026

Secondary pleuroparenchymal fibroelastosis shows worse pre-transplant lung function but comparable post-transplant outcomes to idiopathic pleuroparenchymal fibroelastosis.

Respiration; international review of thoracic diseases·2026

Clinical characteristics of different prolapse phenotypes in severe pelvic organ prolapse: a single-centre retrospective study.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology·2026

Ambulatory and Unattended, Automated Office Blood Pressure in People With and Without HIV in Tanzania: A Cohort Study of Repeatability and Regression to the Mean.

Journal of clinical hypertension (Greenwich, Conn.)·2026

Autonomic function and signal complexity reflect level and severity of traumatic spinal cord injury.

Spinal cord·2026

Prognostic Value of Pulmonary Elastance Methods in HFrEF: A Comparative Study.

Heart, lung & circulation·2026

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Nihon Hinyokika Gakkai zasshi. The japanese journal of urology·2026

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Archives of physical medicine and rehabilitation·2026

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