The annual incidence of DiGeorge/velocardiofacial syndrome

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

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Report of second case and clinical and molecular characterization of Eiken syndrome.

Clinical genetics·2018

Preconceptional care: a systematic review of the current situation and recommendations for the future.

Facts, views & vision in ObGyn·2014

Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

Molecular syndromology·2012

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Molecular syndromology·2010

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Clinical genetics·2010

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Cross-device reproducibility of fNIRS biomarkers in SLE via EEG spatial mapping: a dual-site study.

Cognitive neurodynamics·2026

Citywide traffic sensor network in Nova Gorica, Slovenia: 2025-2026 telraam S2 dataset.

Data in brief·2026

Extraction of Time-Varying Signals in GNSS and Geophysical Interpretation: Methods, Advances, and Challenges.

Sensors (Basel, Switzerland)·2026

Hydrogen sulfide combined with biomaterials for wound healing: a bibliometric analysis.

Medical gas research·2026

Relevance of the uMap Collaborative Platform as Support for Choropleth Mapping of a Traffic-Light Statistical Signal Atlas of All-Cause Mortality During the First French Lockdown: Geospatial Analysis.

JMIR medical informatics·2026

Genome mining reveals an architecturally expanded pyoluteorin-associated biosynthetic gene cluster and a divergent flavin-dependent halogenase-like sequence in deep-sea Pseudomonas Aeruginosa from the Gulf of Guinea.

Antonie van Leeuwenhoek·2026

Related Experiment Videos

The annual incidence of DiGeorge/velocardiofacial syndrome

Related Concept Videos

Spondylo-epiphyseal dysplasia in two sibs due to a homozygous splicing variant in COL2A1.

Report of second case and clinical and molecular characterization of Eiken syndrome.

Preconceptional care: a systematic review of the current situation and recommendations for the future.

Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

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Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

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Cross-device reproducibility of fNIRS biomarkers in SLE via EEG spatial mapping: a dual-site study.

Citywide traffic sensor network in Nova Gorica, Slovenia: 2025-2026 telraam S2 dataset.

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The annual incidence of DiGeorge/velocardiofacial syndrome

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