MPS II in females: molecular basis of two different cases

[McArdle's disease revealed by acute low back pain].

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Physico-chemical studies of resveratrol, methyl-jasmonate and cyclodextrin interactions: an approach to resveratrol bioproduction optimization.

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Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

Orphanet journal of rare diseases·2021

Influence of bacterial resistance on mortality in intensive care units: a registry study from 2000 to 2013 (IICU Study).

The Journal of hospital infection·2019

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Clinical genetics·2018

Weighing in on the risks and benefits of probiotic use in HIV-infected and immunocompromised populations.

Beneficial microbes·2018

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

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Development of macrocyclic peptide inhibitors of Mycobacterium tuberculosis MurF via mRNA display with genetic reprogramming.

RSC medicinal chemistry·2026

Microbial Spectrum of Cholesteatomatous Otitis Media and Its Correlation With Cholesteatoma Staging: A Cross-Sectional Analytical Study.

Cureus·2026

Right Lung Torsion After Minimally Invasive Cardiac Surgery in a Child.

Annals of thoracic surgery short reports·2026

Fulminant extramedullary relapse of multiple myeloma with rare cardiac, vascular, and multivisceral involvement: A case report.

Therapeutic advances in hematology·2026

A case report of Emergomyces orientalis infection in the lung of HIV infected in patient and literature review.

Frontiers in medicine·2026

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Frontiers in medicine·2026

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MPS II in females: molecular basis of two different cases

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[McArdle's disease revealed by acute low back pain].

Physico-chemical studies of resveratrol, methyl-jasmonate and cyclodextrin interactions: an approach to resveratrol bioproduction optimization.

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

Influence of bacterial resistance on mortality in intensive care units: a registry study from 2000 to 2013 (IICU Study).

Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.

Weighing in on the risks and benefits of probiotic use in HIV-infected and immunocompromised populations.

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.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Development of macrocyclic peptide inhibitors of Mycobacterium tuberculosis MurF via mRNA display with genetic reprogramming.

Microbial Spectrum of Cholesteatomatous Otitis Media and Its Correlation With Cholesteatoma Staging: A Cross-Sectional Analytical Study.

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MPS II in females: molecular basis of two different cases

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