Unilateral disomy as a possible explanation for Russell-Silver syndrome

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

Interface focus·2020

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Gene·2016

Biliglobulin: a new look at IgA.

Immunology today·2014

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Clinical genetics·2013

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

Neuroscience letters·2009

The importance of the fetal origins of adult disease for geneticists.

Clinical genetics·2007

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

Binary alloys composed of two fcc metals but featuring a bcc ground state.

Physical chemistry chemical physics : PCCP·2026

Molecular origins of ion mobility differences between the peptide standards GRGDS and SDGRG.

The Analyst·2026

Elucidating the electronic origins of a halide-dependent inversion of magnetic anisotropy in tetravalent uranium amidinate complexes.

Physical chemistry chemical physics : PCCP·2026

Effects of Ligand Electronic Environment on Electrocatalytic Proton Reduction by Cobalt Complexes.

Chemistry, an Asian journal·2026

Large Magnetocaloric Effect in a Ferromagnetically Coupled [Mn3Gd] Complex With a Spin Ground State of S = 11.

Chemistry (Weinheim an der Bergstrasse, Germany)·2026

Bimetallic Conductive Co/Fe-HITP for Sensitive H2S Detection at Low Temperature.

Small (Weinheim an der Bergstrasse, Germany)·2026

Related Experiment Videos

Unilateral disomy as a possible explanation for Russell-Silver syndrome

Related Concept Videos

Preservation of erniettomorph fossils in clay-rich siliciclastic deposits from the Ediacaran Wood Canyon Formation, Nevada.

The early history of Pallister-Hall syndrome-Buried treasure of a sort.

Biliglobulin: a new look at IgA.

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Absence of binding of alpha-bungarotoxin and cobra neurotoxin to central acetylcholine receptors - an autoradiographic study.

The importance of the fetal origins of adult disease for geneticists.

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.

Binary alloys composed of two fcc metals but featuring a bcc ground state.

Molecular origins of ion mobility differences between the peptide standards GRGDS and SDGRG.

Elucidating the electronic origins of a halide-dependent inversion of magnetic anisotropy in tetravalent uranium amidinate complexes.

Effects of Ligand Electronic Environment on Electrocatalytic Proton Reduction by Cobalt Complexes.

Large Magnetocaloric Effect in a Ferromagnetically Coupled [Mn3Gd] Complex With a Spin Ground State of S = 11.

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Unilateral disomy as a possible explanation for Russell-Silver syndrome

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