Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Endovascular aneurysm repair of aortoiliac aneurysms with an iliac side-branched stent graft: studying the morphological applicability of the Cook device.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery·2015

Lower limb salvage: indication and decision making for replantation, revascularisation and amputation.

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca·2014

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Journal of inherited metabolic disease·2013

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

Journal of medical genetics·2013

D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant.

Plant biology (Stuttgart, Germany)·2013

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

JIMD reports·2013

Universal Prenatal cfDNA-Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low-Risk Cohort: A Cost-Effectiveness Analysis.

Prenatal diagnosis·2026

Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants.

Prenatal diagnosis·2026

Prenatal Sonographic Features of Heterozygous DLL1 Single-Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series.

Prenatal diagnosis·2026

Opportunistic Prenatal Genetic Testing During Fetoscopic Laser Surgery for Twin-Twin Transfusion Syndrome.

Prenatal diagnosis·2026

Cell Free DNA Whole Genome in Clinical Practice: A Single Center Seven-Year Experience.

Prenatal diagnosis·2026

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility.

Prenatal diagnosis·2026

Prenatal diagnosis and postnatal outcomes of foetal situs abnormalities: a single tertiary centre experience.

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

Atrophic Papulosis: A Systematic Review of Pediatric Cases.

Pediatric dermatology·2026

From prematurity and low birth weight to CKD: opportunities for intervention.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026

Quantitative Triage and Cumulative Risk in Neonatal Intensive Care Unit Evacuation: A Simulation Study Using Real-World Clinical Data.

Prehospital and disaster medicine·2026

Clinical and laboratory predictors of testicular loss in pediatric torsion patients.

Arab journal of urology·2026

Hydronephrosis and its causes identified on correlative fluoroscopy in a paediatric population at a resource-constrained tertiary hospital in Southern Africa.

Journal of the colleges of medicine of South Africa·2026

Related Experiment Videos

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Related Concept Videos

Endovascular aneurysm repair of aortoiliac aneurysms with an iliac side-branched stent graft: studying the morphological applicability of the Cook device.

Lower limb salvage: indication and decision making for replantation, revascularisation and amputation.

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant.

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

Universal Prenatal cfDNA-Single Gene Disorder Screening for Autosomal Dominant Conditions in a Low-Risk Cohort: A Cost-Effectiveness Analysis.

Clinical Performance Evaluation of Size-Selective Placental Cell-Free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants.

Prenatal Sonographic Features of Heterozygous DLL1 Single-Nucleotide Variants and 6q27 Deletions: A Single Referral Center Retrospective Case Series.

Opportunistic Prenatal Genetic Testing During Fetoscopic Laser Surgery for Twin-Twin Transfusion Syndrome.

Cell Free DNA Whole Genome in Clinical Practice: A Single Center Seven-Year Experience.

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility.

Prenatal diagnosis and postnatal outcomes of foetal situs abnormalities: a single tertiary centre experience.

Atrophic Papulosis: A Systematic Review of Pediatric Cases.

From prematurity and low birth weight to CKD: opportunities for intervention.

Quantitative Triage and Cumulative Risk in Neonatal Intensive Care Unit Evacuation: A Simulation Study Using Real-World Clinical Data.

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Hydronephrosis and its causes identified on correlative fluoroscopy in a paediatric population at a resource-constrained tertiary hospital in Southern Africa.

Related Experiment Videos

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Related Concept Videos

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