Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography

Mutation in Nav 1.7 causes high olfactory sensitivity.

European journal of pain (London, England)·2018

Potential errors with rapid analysis techniques: partial duplication 21q resulting from a paternal paracentric insertion uncovered in chorionic villus sampling by fluorescence in situ hybridization.

Fetal diagnosis and therapy·2009

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.

Journal of the European Academy of Dermatology and Venereology : JEADV·2009

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

British journal of cancer·2009

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

British journal of cancer·2009

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

The British journal of ophthalmology·2008

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

Clinical genetics·2026

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Clinical genetics·2026

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

Identification of Two Novel HLA-A Alleles by Next-Generation Sequencing: HLA-A01:516 and HLA-A03:538.

HLA·2026

Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication.

Cell reports·2026

Genome-wide characterization of copy number variations in Nagami Mithun (Bos frontalis) using whole-genome resequencing.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Brain circadian clock neurons drive fitness advantages in Drosophila.

iScience·2026

Effects of genotype and exercise on hepatic gene expression in phenotype-selected marathon mice.

Scientific data·2026

From fathers to forebears: Benchmarking Y-chromosomal short tandem repeat haplogroup predictors for forensic paternal lineage inference.

Forensic science international. Genetics·2026

Related Experiment Videos

Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography

Related Concept Videos

Mutation in Nav 1.7 causes high olfactory sensitivity.

Potential errors with rapid analysis techniques: partial duplication 21q resulting from a paternal paracentric insertion uncovered in chorionic villus sampling by fluorescence in situ hybridization.

Multiple trichoepitheliomas--a novel mutation in the CYLD gene.

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Identification of Two Novel HLA-A Alleles by Next-Generation Sequencing: HLA-A01:516 and HLA-A03:538.

Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication.

Genome-wide characterization of copy number variations in Nagami Mithun (Bos frontalis) using whole-genome resequencing.

Brain circadian clock neurons drive fitness advantages in Drosophila.

Effects of genotype and exercise on hepatic gene expression in phenotype-selected marathon mice.

From fathers to forebears: Benchmarking Y-chromosomal short tandem repeat haplogroup predictors for forensic paternal lineage inference.

Related Experiment Videos

Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography

Related Concept Videos

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