First-trimester diagnosis of genetic metabolic disorders

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Human mutation·2006

Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains.

Acta physiologica (Oxford, England)·2006

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.

Neurology·2006

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

Neuropediatrics·2005

[From gene to disease; Krabbe disease and galactosylceramidase deficiency].

Nederlands tijdschrift voor geneeskunde·2004

[From gene to disease; ataxia telangiectasia].

Nederlands tijdschrift voor geneeskunde·2003

Endometrial ablation in the year 2000--do we have more methods than indications?

Contributions to gynecology and obstetrics·2002

Hysteroscopic resection of submucous myomas.

Contributions to gynecology and obstetrics·2002

Differentiation and management of endometrium abnormalities and leiomyomas by hydrosonography.

Contributions to gynecology and obstetrics·2002

Tamoxifen-induced hyperplasia of the endometrium.

Contributions to gynecology and obstetrics·2002

Hysteroscopy in the assessment of postmenopausal bleeding.

Contributions to gynecology and obstetrics·2002

Hysteroscopy and adenomyosis.

Contributions to gynecology and obstetrics·2002

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

PloS one·2026

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

British poultry science·2026

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

Frontiers in cardiovascular medicine·2026

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

BMC genomics·2026

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Lipids·2026

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Molecular psychiatry·2026

Related Experiment Videos

First-trimester diagnosis of genetic metabolic disorders

Related Concept Videos

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains.

Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

[From gene to disease; Krabbe disease and galactosylceramidase deficiency].

[From gene to disease; ataxia telangiectasia].

Endometrial ablation in the year 2000--do we have more methods than indications?

Hysteroscopic resection of submucous myomas.

Differentiation and management of endometrium abnormalities and leiomyomas by hydrosonography.

Tamoxifen-induced hyperplasia of the endometrium.

Hysteroscopy in the assessment of postmenopausal bleeding.

Hysteroscopy and adenomyosis.

Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.

Genome-wide candidate signatures of divergent selection between broody Silkie and White Leghorn chickens revealed by high-density SNP genotyping.

Successful radiofrequency catheter ablation of right-sided focal atrial tachycardia in a patient with Holt-Oram syndrome: a case report.

SNP genotyping in Pseudotsuga menziesii and Pinus radiata using targeted genotyping-by-sequencing (GBS): improved Bayesian SNP calling using a beta-binomial distribution and other optimized input parameters.

Causal Effects of Lipoproteins and Lipids on Atrial Fibrillation: A Mendelian Randomization Study.

Dissecting the shared genetic architecture and biological mechanisms linking sleep traits and suicide attempts: from variants to genes.

Related Experiment Videos

First-trimester diagnosis of genetic metabolic disorders

Related Concept Videos

Related Articles