"Crossing borders" SSIEM 2014 annual symposium in Innsbruck

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

Biomolecules·2026

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Journal of genetic counseling·2026

Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland.

European journal of human genetics : EJHG·2026

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Molecular metabolism·2026

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Journal of inherited metabolic disease·2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

American journal of human genetics·2026

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Journal of inherited metabolic disease·2026

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Journal of inherited metabolic disease·2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal of inherited metabolic disease·2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal of inherited metabolic disease·2026

Iatrogenic Vascular Injuries in Australia and New Zealand: A 15 Year Study From the Australasian Vascular Audit.

ANZ journal of surgery·2026

Diagnostic performance of the 2023 International MOGAD Panel criteria in broad diagnostic-evaluation and MOG-IgG-positive enriched cohorts: a systematic review and meta-analysis.

Journal of neurology·2026

A comparative study of the effectiveness of cooled versus room temperature lignocaine gel for relieving pain during optical internal urethrotomy.

Urologia·2026

Gold Coast criteria for ALS diagnosis: individual participant data meta-analysis.

Journal of neurology·2026

Intravenous iron to treat anaemia before cardiac surgery (ITACS): international, double blind, placebo controlled randomised trial.

BMJ (Clinical research ed.)·2026

Updating the evidence on brighton collaboration's GAIA maternal immunisation case definitions: a systematic review of performance and implementation challenges.

Vaccine·2026

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"Crossing borders" SSIEM 2014 annual symposium in Innsbruck

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The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland.

Biallelic TXNIP deficiency is associated with a multisystemic metabolic disease.

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Mitochondrial CLPP in Health and Disease: Mechanisms, Therapeutic Duality and Emerging Opportunities.

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

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Diagnostic performance of the 2023 International MOGAD Panel criteria in broad diagnostic-evaluation and MOG-IgG-positive enriched cohorts: a systematic review and meta-analysis.

A comparative study of the effectiveness of cooled versus room temperature lignocaine gel for relieving pain during optical internal urethrotomy.

Gold Coast criteria for ALS diagnosis: individual participant data meta-analysis.

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"Crossing borders" SSIEM 2014 annual symposium in Innsbruck

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