Silver-Russell syndrome and ring chromosome 7

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Clinical genetics·2017

Bone health and SATB2-associated syndrome.

Clinical genetics·2017

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

Translational psychiatry·2016

Recent Advances in Imprinting Disorders.

Clinical genetics·2016

IFPA meeting 2014 workshop report: Animal models to study pregnancy pathologies; new approaches to study human placental exposure to xenobiotics; biomarkers of pregnancy pathologies; placental genetics and epigenetics; the placenta and stillbirth and fetal growth restriction.

Placenta·2015

Distinct promoter methylation and isoform-specific expression of RASFF1A in placental biopsies from complicated pregnancies.

Placenta·2015

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Long-term trends (1987-2020) and seasonal characteristics of atmospheric 7Be activity concentration in Japan based on continuous measurements.

Journal of environmental radioactivity·2026

Environmental heterogeneity dominates the regulation of metabolites in ephemeral plants by the rhizosphere microbial community.

Frontiers in plant science·2026

Genesis mechanisms of medium- and low- temperature convective geothermal fields in Wenquan County, Xinjiang.

PloS one·2026

Infrared stimulation of mitochondrial metabolism in deep-sea yeast expands the energetic framework of hydrothermal ecosystems.

ISME communications·2026

Mechanistic understanding of soil arsenic enrichment and selenium deficiency in the Qinghai-Tibet Plateau via integrated geographically weighted regression and machine learning.

Environmental pollution (Barking, Essex : 1987)·2026

Prokaryotic and microbial eukaryotic communities across acid-sulfate and chloride-rich hot springs in Lassen Volcanic National Park.

Scientific reports·2026

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Silver-Russell syndrome and ring chromosome 7

Related Concept Videos

Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.

Bone health and SATB2-associated syndrome.

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

Recent Advances in Imprinting Disorders.

IFPA meeting 2014 workshop report: Animal models to study pregnancy pathologies; new approaches to study human placental exposure to xenobiotics; biomarkers of pregnancy pathologies; placental genetics and epigenetics; the placenta and stillbirth and fetal growth restriction.

Distinct promoter methylation and isoform-specific expression of RASFF1A in placental biopsies from complicated pregnancies.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Long-term trends (1987-2020) and seasonal characteristics of atmospheric 7Be activity concentration in Japan based on continuous measurements.

Environmental heterogeneity dominates the regulation of metabolites in ephemeral plants by the rhizosphere microbial community.

Genesis mechanisms of medium- and low- temperature convective geothermal fields in Wenquan County, Xinjiang.

Infrared stimulation of mitochondrial metabolism in deep-sea yeast expands the energetic framework of hydrothermal ecosystems.

Mechanistic understanding of soil arsenic enrichment and selenium deficiency in the Qinghai-Tibet Plateau via integrated geographically weighted regression and machine learning.

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Silver-Russell syndrome and ring chromosome 7

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