Neurocristopathies and chromosome anomalies

Incisional hernia repair in a high-fidelity silicone model for open retro-muscular mesh implantation with preparation of the fatty triangle: validation and educational impact study.

Hernia : the journal of hernias and abdominal wall surgery·2019

Validation and educational impact study of the NANEP high-fidelity simulation model for open preperitoneal mesh repair of umbilical hernia.

Hernia : the journal of hernias and abdominal wall surgery·2019

A randomized trial of safety, pharmacokinetics and pharmacodynamics of concizumab in people with hemophilia A.

Journal of thrombosis and haemostasis : JTH·2018

Concizumab, an anti-tissue factor pathway inhibitor antibody, induces increased thrombin generation in plasma from haemophilia patients and healthy subjects measured by the thrombin generation assay.

Haemophilia : the official journal of the World Federation of Hemophilia·2017

Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles.

Biomaterials·2016

Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model.

Journal of controlled release : official journal of the Controlled Release Society·2015

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Reframing neuropsychiatric disorders: Nuclear calcium signaling as a core signaling axis of mitochondrial proteostasis and synaptic energy homeostasis.

Molecular and cellular neurosciences·2026

National survey of patients with neuromuscular disease and COVID-19 in Japan.

Brain & development·2026

Lethargy With Reversible Bilateral Basal Ganglia and Substantia Nigra Lesions in Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report.

Cureus·2026

A dual-method assessment of West Nile and Chikungunya viruses in blood donations from Fars province, southwestern Iran.

Parasite epidemiology and control·2026

Identification, validation, and prediction of longitudinal recovery phenotypes in degenerative cervical myelopathy: analysis of prospective cohorts and a randomised controlled trial.

EClinicalMedicine·2026

Utilization of medications for neuropathic pain in patients with and without knee and hip osteoarthritis in Sweden: A population-based cohort study.

Osteoarthritis and cartilage open·2026

Related Experiment Videos

Neurocristopathies and chromosome anomalies

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Incisional hernia repair in a high-fidelity silicone model for open retro-muscular mesh implantation with preparation of the fatty triangle: validation and educational impact study.

Validation and educational impact study of the NANEP high-fidelity simulation model for open preperitoneal mesh repair of umbilical hernia.

A randomized trial of safety, pharmacokinetics and pharmacodynamics of concizumab in people with hemophilia A.

Concizumab, an anti-tissue factor pathway inhibitor antibody, induces increased thrombin generation in plasma from haemophilia patients and healthy subjects measured by the thrombin generation assay.

Structural recovery of the retina in a retinoschisin-deficient mouse after gene replacement therapy by solid lipid nanoparticles.

Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Reframing neuropsychiatric disorders: Nuclear calcium signaling as a core signaling axis of mitochondrial proteostasis and synaptic energy homeostasis.

National survey of patients with neuromuscular disease and COVID-19 in Japan.

Lethargy With Reversible Bilateral Basal Ganglia and Substantia Nigra Lesions in Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report.

A dual-method assessment of West Nile and Chikungunya viruses in blood donations from Fars province, southwestern Iran.

Identification, validation, and prediction of longitudinal recovery phenotypes in degenerative cervical myelopathy: analysis of prospective cohorts and a randomised controlled trial.

Utilization of medications for neuropathic pain in patients with and without knee and hip osteoarthritis in Sweden: A population-based cohort study.

Related Experiment Videos

Neurocristopathies and chromosome anomalies

Related Concept Videos

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