La genética de la esclerosis tuberosa

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

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Lancet (London, England)·2026

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Lancet (London, England)·2026

Advancing the relevance of clinical trials for older patients.

Lancet (London, England)·2026

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Lancet (London, England)·2026

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

Lancet (London, England)·2026

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

PLoS genetics·2026

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Neurology. Genetics·2026

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Animals : an open access journal from MDPI·2026

Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Animals : an open access journal from MDPI·2026

Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

International journal of molecular sciences·2026

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Molecular psychiatry·2026

Videos de Experimentos Relacionados

La genética de la esclerosis tuberosa

Videos de Conceptos Relacionados

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.

1-month versus 12-month dual antithrombotic therapy after percutaneous coronary intervention in patients with atrial fibrillation (OPTIMA-AF): a multicentre, open-label, hybrid non-inferiority and superiority, randomised, controlled trial.

Multidomain lifestyle intervention for the prevention of cognitive decline in at-risk older adults in Latin America (LatAm-FINGERS): a single-blind, multicentre, randomised controlled trial.

Advancing the relevance of clinical trials for older patients.

Temocillin versus carbapenems for bacteraemia due to third-generation cephalosporin-resistant Enterobacterales in Spain (ASTARTÉ): a multicentre, phase 3, open-label, non-inferiority, randomised clinical trial.

Fixed-duration pirtobrutinib plus venetoclax-rituximab versus venetoclax-rituximab for patients with previously treated chronic lymphocytic leukaemia or small lymphocytic lymphoma (BRUIN CLL-322): an open-label, multicentre, randomised, controlled, phase 3 trial.

Children in all policies: lessons from a global collaboration to promote the health and wellbeing of children and future generations.

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Videos de Experimentos Relacionados

La genética de la esclerosis tuberosa

Videos de Conceptos Relacionados

Artículos Relacionados