A further tetranucleotide repeat polymorphism in the vWF gene

Improved deconvolution of sequenced based mixtures by extending EuroForMix.

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Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validation.

American journal of obstetrics and gynecology·2025

Effectiveness of duodenal bulb biopsies in histological diagnosis of coeliac disease.

European journal of pediatrics·2025

Uptake and experience of professional interpreting services in primary care in a South Asian population: a national cross-sectional study.

BMC primary care·2024

A qualitative exploration of Maltese couples' care experiences of prostate cancer diagnosis and radiotherapy treatment.

Radiography (London, England : 1995)·2024

'Low' LRs obtained from DNA mixtures: On calibration and discrimination performance of probabilistic genotyping software.

Forensic science international. Genetics·2024

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

A further tetranucleotide repeat polymorphism in the vWF gene

Related Concept Videos

Improved deconvolution of sequenced based mixtures by extending EuroForMix.

Preimplantation genetic testing for aneuploidy mosaicism reporting lacks clinical predictive value for live birth in a multisite, double-blinded study with independent validation.

Effectiveness of duodenal bulb biopsies in histological diagnosis of coeliac disease.

Uptake and experience of professional interpreting services in primary care in a South Asian population: a national cross-sectional study.

A qualitative exploration of Maltese couples' care experiences of prostate cancer diagnosis and radiotherapy treatment.

'Low' LRs obtained from DNA mixtures: On calibration and discrimination performance of probabilistic genotyping software.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

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The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

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Related Experiment Videos

A further tetranucleotide repeat polymorphism in the vWF gene

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