Journal of Genetic and Hereditary Case Studies (JGHCS)
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Pathogenic variants in KPTN gene identified by Clinical Whole-Genome Sequencing
Status epilepticus is not rare in Critically ill intensive Care unit patients. but its diagnosis is Often delayed Or missed. The mortality for convulsive Status epilepticus is dependent on the underlying aetiologies and the age Of the patients.
PDFHyponatremic Seizure after Long Term Water Administration for Weight Control in a Patient with Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic syndrome well known for morbid obesity due to hyperphagia that is difficult to treat. Strategies for weight management include strict dietary planning.
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Journal of Genetic and Hereditary Case Studies (JGHCS)
Journal of Genetic and Hereditary Case Studies (JGHCS) devoted to the rapid publication of original papers on reliable analytical methodologies, robust statistical analyses, experimental, theoretical and applied approaches of genetics. We welcome articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, diagnosis and genetic diseases and advances in treatment and prevention.
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Pathogenic variants in KPTN gene identified by Clinical Whole-Genome Sequencing
Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is Often delayed or missd The mortality for convulsive Status epilepticus is dependent on the underlying aetiologies and the age of the patients.
Saunders CHyponatremic Seizure after Long Term Water Administration for Weight Control in a Patient with Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is genetic Syndrome well known for morbid Obesity due to hyperphagia that is difficult to treat. Strategies for weight management include Strict dietary planning, growth hormone treatment.
Sacharow S