ABC of clinical genetics. Chromosomal disorders. I

Overview of 'Omics Technologies for Military Occupational Health Surveillance and Medicine.

Military medicine·2015

Atmospheric pressure microwave sample preparation procedure for the combined analysis of total phosphorus and kjeldahl nitrogen.

Analytical chemistry·2011

α-Galactosidase A expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine trafficking.

Human gene therapy·2010

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Neurology·2008

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

American journal of human genetics·2007

A new method to assess mercury emissions: a study of three coal-fired electric-generating power station configurations.

Journal of the Air & Waste Management Association (1995)·2003

Diagnosis and management of acute hyperkalaemia.

BMJ (Clinical research ed.)·2026

Head positioning after endovascular therapy for acute stroke due to large vessel occlusion (HeadSOAR): multicentre randomised controlled trial.

BMJ (Clinical research ed.)·2026

Discovering reference-missing cell types in bulk transcriptomics.

Bioinformatics (Oxford, England)·2026

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.

Nucleus (Austin, Tex.)·2026

ZATELLITE: a toolkit to visualize and manipulate human centromeres in live cells using synthetic zinc fingers.

bioRxiv : the preprint server for biology·2026

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

medRxiv : the preprint server for health sciences·2026

Structural determination of human nucleosomes reconstituted by the ExACT platform.

bioRxiv : the preprint server for biology·2026

The linker histone H1.4 condenses chromatin in maturing postmitotic neurons.

bioRxiv : the preprint server for biology·2026

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ABC of clinical genetics. Chromosomal disorders. I

Related Concept Videos

Overview of 'Omics Technologies for Military Occupational Health Surveillance and Medicine.

Atmospheric pressure microwave sample preparation procedure for the combined analysis of total phosphorus and kjeldahl nitrogen.

α-Galactosidase A expressed in the salivary glands partially corrects organ biochemical deficits in the fabry mouse through endocrine trafficking.

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

A new method to assess mercury emissions: a study of three coal-fired electric-generating power station configurations.

Diagnosis and management of acute hyperkalaemia.

Head positioning after endovascular therapy for acute stroke due to large vessel occlusion (HeadSOAR): multicentre randomised controlled trial.

Discovering reference-missing cell types in bulk transcriptomics.

A homozygous lamin B receptor variant resulting in Pelger-Huët anomaly without skeletal dysplasia.

ZATELLITE: a toolkit to visualize and manipulate human centromeres in live cells using synthetic zinc fingers.

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

Structural determination of human nucleosomes reconstituted by the ExACT platform.

The linker histone H1.4 condenses chromatin in maturing postmitotic neurons.

Related Experiment Videos

ABC of clinical genetics. Chromosomal disorders. I

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