The prenatal diagnosis of inborn errors of metabolism

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Artificial Intelligence and Radiomics in the Diagnosis and Management of Cancer.

Annual review of medicine·2026

Spectrum of Gluten Intolerance.

Annual review of medicine·2026

Genomic Screening for Infants and Reproductive Adults.

Annual review of medicine·2026

Progress in Malaria Prevention.

Annual review of medicine·2026

Rethinking Complement in Homeostasis and Disease.

Annual review of medicine·2026

Mild Autonomous Cortisol Secretion and Metabolic Syndrome: An Emerging Clinical Link.

Annual review of medicine·2026

Psychobiotic, nutritional, and behavioral interventions targeting the microbiome-gut-brain axis in depression, anxiety, and stress: a scoping review.

Frontiers in nutrition·2026

Acetone Extract of Annona Muricata Linn Leaf Counteracts Hyperglycemia-Associated Metabolic Dysregulation by Modulating Oxidative Stress and Hepatic Carbohydrate Metabolism in Streptozotocin-Induced Diabetic Rats.

Cell biochemistry and biophysics·2026

Longitudinal validation of an original bias-reduced fat-free mass metabolic coefficient in inpatients with obesity.

Nutrition, metabolism, and cardiovascular diseases : NMCD·2026

Imeglimin provides dual hepatic and skeletal muscle protection in experimental MASH-associated sarcopenia.

Biochimica et biophysica acta. Molecular basis of disease·2026

Body Roundness Index, MASLD risk and long-term follow-up outcomes among the general population.

JHEP reports : innovation in hepatology·2026

Immuno-spin trapping after Intraarticular Procedures Shows Coordination between Radical Production, Iron Metabolism, and Mitochondria in Articular Chondrocytes.

Osteoarthritis and cartilage·2026

Related Experiment Videos

The prenatal diagnosis of inborn errors of metabolism

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Artificial Intelligence and Radiomics in the Diagnosis and Management of Cancer.

Spectrum of Gluten Intolerance.

Genomic Screening for Infants and Reproductive Adults.

Progress in Malaria Prevention.

Rethinking Complement in Homeostasis and Disease.

Mild Autonomous Cortisol Secretion and Metabolic Syndrome: An Emerging Clinical Link.

Psychobiotic, nutritional, and behavioral interventions targeting the microbiome-gut-brain axis in depression, anxiety, and stress: a scoping review.

Acetone Extract of Annona Muricata Linn Leaf Counteracts Hyperglycemia-Associated Metabolic Dysregulation by Modulating Oxidative Stress and Hepatic Carbohydrate Metabolism in Streptozotocin-Induced Diabetic Rats.

Longitudinal validation of an original bias-reduced fat-free mass metabolic coefficient in inpatients with obesity.

Imeglimin provides dual hepatic and skeletal muscle protection in experimental MASH-associated sarcopenia.

Body Roundness Index, MASLD risk and long-term follow-up outcomes among the general population.

Immuno-spin trapping after Intraarticular Procedures Shows Coordination between Radical Production, Iron Metabolism, and Mitochondria in Articular Chondrocytes.

Related Experiment Videos

The prenatal diagnosis of inborn errors of metabolism

Related Concept Videos

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