Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC

Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.

Neurologia i neurochirurgia polska·2015

Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Amino acids·2013

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.

Journal of applied genetics·2010

The level of chemokine CXCL5 in the cerebrospinal fluid is increased during the first 24 hours of ischaemic stroke and correlates with the size of early brain damage.

Folia morphologica·2006

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Human mutation·2006

Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains.

Acta physiologica (Oxford, England)·2006

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

Gravitational torque drives multidecadal variations in length of day.

Nature·2026

Biogenic silica fluxes in the seasonally ice-covered Northwind Ridge, western Arctic Ocean: drivers and implications for the biological carbon pump.

Marine pollution bulletin·2026

Toward Pristine Return: Probabilistic Sample Response Modeling of Vibration Sensing for Planetary Samples.

Sensors (Basel, Switzerland)·2026

Correction: Šoša et al. Metabolic Dysfunction-Associated Steatotic Liver Disease Induced by Microplastics: An Endpoint in the Liver-Eye Axis. Int. J. Mol. Sci. 2025, 26, 2837.

International journal of molecular sciences·2026

Calibration of the Mass Spectrometer of China's Chang'E-7 Lunar Soil Water Molecule Analyzer.

Journal of the American Society for Mass Spectrometry·2026

ShortSCOPE: An Optical Short-Period Seismic Sensor for Planetary Exploration.

Space science reviews·2026

Related Experiment Videos

Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC

Related Concept Videos

Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.

Differential diagnosis of (inherited) amino acid metabolism or transport disorders.

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features.

The level of chemokine CXCL5 in the cerebrospinal fluid is increased during the first 24 hours of ischaemic stroke and correlates with the size of early brain damage.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Regulation of the cell swelling-activated chloride conductance by cholesterol-rich membrane domains.

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.

Gravitational torque drives multidecadal variations in length of day.

Biogenic silica fluxes in the seasonally ice-covered Northwind Ridge, western Arctic Ocean: drivers and implications for the biological carbon pump.

Toward Pristine Return: Probabilistic Sample Response Modeling of Vibration Sensing for Planetary Samples.

Correction: Šoša et al. Metabolic Dysfunction-Associated Steatotic Liver Disease Induced by Microplastics: An Endpoint in the Liver-Eye Axis. Int. J. Mol. Sci. 2025, 26, 2837.

Calibration of the Mass Spectrometer of China's Chang'E-7 Lunar Soil Water Molecule Analyzer.

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Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC

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