No evidence for mosaicism in Silver-Russell syndrome

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

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

Placenta·2015

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

The genetic aetiology of Silver-Russell syndrome.

Journal of medical genetics·2007

Limited evolutionary conservation of imprinting in the human placenta.

Proceedings of the National Academy of Sciences of the United States of America·2006

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

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

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

Transhumanism Without Transindividuation in the Age Without Epochality: Stiegler, Vice, and Radical Human Enhancement.

Bioethics·2026

A NACHT domain-containing protein Ncp is required for appendage-associated unconventional protein secretion in the fungus Penicillium herquei.

iScience·2026

The Novel Non-Classical HLA-G*01:70 Allele Identified in a Chinese Individual.

HLA·2026

TENG with SMIP nanocatalytic probes for au nanosol SERS/abs quantitative analysis of ultratrace 4-methylimidazole.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

Albumin Pre-Coating Enhances Intracellular siRNA Delivery of Multifunctional Amphiphile/siRNA Nanoparticles [Retraction].

International journal of nanomedicine·2026

George Martin and Werner's Syndrome.

Cytogenetic and genome research·2026

Related Experiment Videos

No evidence for mosaicism in Silver-Russell syndrome

Related Concept Videos

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

Recent Advances in Imprinting Disorders.

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

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.

The genetic aetiology of Silver-Russell syndrome.

Limited evolutionary conservation of imprinting in the human placenta.

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

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

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.

Transhumanism Without Transindividuation in the Age Without Epochality: Stiegler, Vice, and Radical Human Enhancement.

A NACHT domain-containing protein Ncp is required for appendage-associated unconventional protein secretion in the fungus Penicillium herquei.

The Novel Non-Classical HLA-G*01:70 Allele Identified in a Chinese Individual.

TENG with SMIP nanocatalytic probes for au nanosol SERS/abs quantitative analysis of ultratrace 4-methylimidazole.

Albumin Pre-Coating Enhances Intracellular siRNA Delivery of Multifunctional Amphiphile/siRNA Nanoparticles [Retraction].

George Martin and Werner's Syndrome.

Related Experiment Videos

No evidence for mosaicism in Silver-Russell syndrome

Related Concept Videos

Related Articles