在白化症中产前诊断

Aiding the vision in albinism--optical and non-optical means considered.

Transactions of the ophthalmological societies of the United Kingdom·1985

Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism.

Acta dermato-venereologica·1985

Hereditary puzzles in albinism: heterogeneity or phenotypical variation?

Transactions of the ophthalmological societies of the United Kingdom·1983

Albinos who bleed (Hermansky-Pudlak syndrome). The Gypsy's Warning?

Transactions of the ophthalmological societies of the United Kingdom·1981

Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation.

Transactions of the ophthalmological societies of the United Kingdom·1978

The Mackenzie Memorial Lecture, 1977. Of divers colours.

Transactions of the ophthalmological societies of the United Kingdom·1977

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 <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Animals : an open access journal from MDPI·2026

Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-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

相关实验视频

在白化症中产前诊断

相关概念视频

Aiding the vision in albinism--optical and non-optical means considered.

Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism.

Hereditary puzzles in albinism: heterogeneity or phenotypical variation?

Albinos who bleed (Hermansky-Pudlak syndrome). The Gypsy's Warning?

Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation.

The Mackenzie Memorial Lecture, 1977. Of divers colours.

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 <i>PACSIN1</i> as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Bayesian Population-Based Prevalence Estimation of <i>KCNV2</i>-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.

相关实验视频

在白化症中产前诊断

相关概念视频

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