A microassay for argininosuccinase in cultured cells

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

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

American journal of human genetics·2026

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

American journal of human genetics·2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

American journal of human genetics·2026

Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.

American journal of human genetics·2026

Shared genetic basis and structure of syndromic and normal facial variation.

American journal of human genetics·2026

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

American journal of human genetics·2026

Photothermal Recycling Biosensing for Continuous, Sensitive Molecular Quantification.

ACS sensors·2026

Rapid ESBL-Carba Combo PN test for simultaneous detection of ESBL and carbapenemase activity in Enterobacterales.

Microbiology spectrum·2026

Leptospira spp. Toolbox for Chemotaxis Assay.

Methods in molecular biology (Clifton, N.J.)·2026

Application of volumetric absorptive microsampling (VAMS) for the simultaneous determination of cadmium and lead in blood.

Environmental monitoring and assessment·2026

A Streamlined Automated Liquid Handling and 96-Well Solid-Phase Extraction for Single Low-Volume Urine Aliquot Multiclass Biomarker Analysis in Human Biomonitoring.

Environmental chemistry and ecotoxicology·2026

Discrepancies in plasma alkaline phosphatase reruns on Cobas c503 Roche analysers: a retrospective analysis and impact of dilution.

Diagnosis (Berlin, Germany)·2026

Related Experiment Videos

A microassay for argininosuccinase in cultured cells

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.

Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.

Shared genetic basis and structure of syndromic and normal facial variation.

The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.

Photothermal Recycling Biosensing for Continuous, Sensitive Molecular Quantification.

Rapid ESBL-Carba Combo PN test for simultaneous detection of ESBL and carbapenemase activity in Enterobacterales.

Leptospira spp. Toolbox for Chemotaxis Assay.

Application of volumetric absorptive microsampling (VAMS) for the simultaneous determination of cadmium and lead in blood.

A Streamlined Automated Liquid Handling and 96-Well Solid-Phase Extraction for Single Low-Volume Urine Aliquot Multiclass Biomarker Analysis in Human Biomonitoring.

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Related Experiment Videos

A microassay for argininosuccinase in cultured cells

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