Genetic heterogeneity of cebocephaly

From the National Health Service to local government: perceptions of public health transition in England.

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Structure and formation of highly luminescent protein-stabilized gold clusters.

Chemical science·2018

Evidence-based medicine meets democracy: the role of evidence-based public health guidelines in local government.

Journal of public health (Oxford, England)·2017

The regulation of component processes of photosynthesis in transgenic tobacco with decreased phosphoribulokinase activity.

Photosynthesis research·2013

'Are we there yet?' - operationalizing the concept of Integrated Public Health Policies.

Health policy (Amsterdam, Netherlands)·2013

Comparative safety of antiepileptic drugs during pregnancy.

Neurology·2012

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

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Annals of human genetics·2026

Gerstmann-Straussler-Scheinker Disease With F198S Mutation Diagnosis on Repeat Genetic Testing: A Case Report.

Cureus·2026

Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.

Frontiers in neurology·2026

Characterisation of the Novel HLA-DRB1*10:52 Allele by Next-Generation Sequencing and Oxford Nanopore Sequencing.

HLA·2026

Hyperexcitability in hippocampal CA1 pyramidal cells OF Fmr1 knockout mice emerges during late postnatal development.

Neuroscience·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

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Genetic heterogeneity of cebocephaly

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From the National Health Service to local government: perceptions of public health transition in England.

Structure and formation of highly luminescent protein-stabilized gold clusters.

Evidence-based medicine meets democracy: the role of evidence-based public health guidelines in local government.

The regulation of component processes of photosynthesis in transgenic tobacco with decreased phosphoribulokinase activity.

'Are we there yet?' - operationalizing the concept of Integrated Public Health Policies.

Comparative safety of antiepileptic drugs during pregnancy.

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.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

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Genetic heterogeneity of cebocephaly

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