Angelman's syndrome, abnormality of 15q11-13, and imprinting

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

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

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

Iceland-Faroe overflow revealed by in-situ observations.

Nature communications·2026

Magma as a carrier of non-stoichiometric oxygen linking Earth's interior and atmosphere.

National science review·2026

Aedes (Ochlerotatus) amateuri Ortega and Zavortink (Diptera: Culicidae) in the Madrean Sky Islands of Arizona, USA: a new country record.

Journal of medical entomology·2026

Coordinated satellite, aircraft, and ground-based observations of a large transient methane release.

Proceedings of the National Academy of Sciences of the United States of America·2026

Global monitoring of methane point sources using deep learning on hyperspectral radiance measurements from EMIT.

Proceedings of the National Academy of Sciences of the United States of America·2026

Assessing cell survival and biosignature preservation of the extremely thermoacidophilic archaeon Acidianus manzaensis after exposure to Mars-like conditions.

FEMS microbes·2026

Related Experiment Videos

Angelman's syndrome, abnormality of 15q11-13, and imprinting

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.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

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.

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

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

Iceland-Faroe overflow revealed by in-situ observations.

Magma as a carrier of non-stoichiometric oxygen linking Earth's interior and atmosphere.

Aedes (Ochlerotatus) amateuri Ortega and Zavortink (Diptera: Culicidae) in the Madrean Sky Islands of Arizona, USA: a new country record.

Coordinated satellite, aircraft, and ground-based observations of a large transient methane release.

Global monitoring of methane point sources using deep learning on hyperspectral radiance measurements from EMIT.

Assessing cell survival and biosignature preservation of the extremely thermoacidophilic archaeon Acidianus manzaensis after exposure to Mars-like conditions.

Related Experiment Videos

Angelman's syndrome, abnormality of 15q11-13, and imprinting

Related Concept Videos

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