Clinical aspects of cystinuria

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

Clinical genetics·2006

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients.

Annals of the rheumatic diseases·2004

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Molecular and cellular probes·2002

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

European journal of human genetics : EJHG·2001

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Human mutation·2001

Familial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis.

Blood purification·2001

Adsorption of Pathogens and Blockade of Sepsis Cascade.

Contributions to nephrology·2023

Hemoadsorption: Research Agenda and Potential Future Applications.

Contributions to nephrology·2023

Hemoperfusion in Poisoning and Drug Overdose.

Contributions to nephrology·2023

Hemoperfusion in Burns.

Contributions to nephrology·2023

Sequential Extracorporeal Therapy in Sepsis.

Contributions to nephrology·2023

The Use of Adsorption in Extracorporeal Liver Support: The Double Plasma Molecular Adsorption System (DPMAS).

Contributions to nephrology·2023

Second Harmonic Generation Imaging Links Collagen Structure and Biochemical Composition in Human Osteoarthritic Cartilage.

Annals of biomedical engineering·2026

A novel closed book parenchyma sparing technique for giant pulmonary hydatid cysts.

Acta chirurgica Belgica·2026

C2 Hangman's fracture treated with posterior cervical fixation with preservation of the semispinalis cervicis muscle: a case report.

International journal of surgery case reports·2026

Active Craniospinal Tensioning (ACT) for Posture Correction and Spinal Decompression: Biomechanical Rationale for Glymphatic Clearance and Cerebral Venous Preconditioning (CVPC).

Cureus·2026

Automated FLIM-FRET Segmentation Within RNP Condensates.

Bio-protocol·2026

Choroid plexus enlargement is negatively associated with cognitive performance in a DTI-ALPS-dependent manner.

Frontiers in aging neuroscience·2026

Related Experiment Videos

Clinical aspects of cystinuria

Related Concept Videos

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients.

Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1.

Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Familial homozygous hypercholesterolemia: effective long-term treatment with cascade double filtration plasmapheresis.

Adsorption of Pathogens and Blockade of Sepsis Cascade.

Hemoadsorption: Research Agenda and Potential Future Applications.

Hemoperfusion in Poisoning and Drug Overdose.

Hemoperfusion in Burns.

Sequential Extracorporeal Therapy in Sepsis.

The Use of Adsorption in Extracorporeal Liver Support: The Double Plasma Molecular Adsorption System (DPMAS).

Second Harmonic Generation Imaging Links Collagen Structure and Biochemical Composition in Human Osteoarthritic Cartilage.

A novel closed book parenchyma sparing technique for giant pulmonary hydatid cysts.

C2 Hangman's fracture treated with posterior cervical fixation with preservation of the semispinalis cervicis muscle: a case report.

Active Craniospinal Tensioning (ACT) for Posture Correction and Spinal Decompression: Biomechanical Rationale for Glymphatic Clearance and Cerebral Venous Preconditioning (CVPC).

Automated FLIM-FRET Segmentation Within RNP Condensates.

Choroid plexus enlargement is negatively associated with cognitive performance in a DTI-ALPS-dependent manner.

Related Experiment Videos

Clinical aspects of cystinuria

Related Concept Videos

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