Prenatal diagnosis of type I hereditary tyrosinaemia

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

International journal of cardiology·2017

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.

Case reports in genetics·2015

Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.

Ideggyogyaszati szemle·2012

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

Haemophilia : the official journal of the World Federation of Hemophilia·2010

SMAD4 mutations found in unselected HHT patients.

Journal of medical genetics·2006

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

Journal of medical genetics·2005

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Lancet (London, England)·2026

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

An ulcerated ileal leiomyosarcoma identified by single-balloon enteroscopy despite nondiagnostic mucosal biopsies.

Revista espanola de enfermedades digestivas·2026

Rectal tonsil mimicking a rectal neuroendocrine tumor.

Revista espanola de enfermedades digestivas·2026

Assessment of Clinical and Immunological Factors of Local Recurrence in Canine Soft Tissue Sarcoma.

Veterinary and comparative oncology·2026

Tanshinone IIA restores CD8+ T-cell immunity in TNBC by suppressing the IDO1-kynurenine axis.

Frontiers in pharmacology·2026

A hypothesis and evidence map for neuroimmune regulation of DOCK-family cytoskeletal programs in solid tumors.

Frontiers in immunology·2026

Simultaneous DOTATATE uptake in three non-neuroendocrine pathologies: Follicular lymphoma, Crohn's disease, and vertebral hemangioma.

Radiology case reports·2026

Related Experiment Videos

Prenatal diagnosis of type I hereditary tyrosinaemia

Related Concept Videos

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18.

Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients.

SMAD4 mutations found in unselected HHT patients.

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia.

Wildfire smoke and health: current evidence, mechanisms, and future challenges.

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

The changing therapeutic landscape of small-cell lung cancer.

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

An ulcerated ileal leiomyosarcoma identified by single-balloon enteroscopy despite nondiagnostic mucosal biopsies.

Rectal tonsil mimicking a rectal neuroendocrine tumor.

Assessment of Clinical and Immunological Factors of Local Recurrence in Canine Soft Tissue Sarcoma.

Tanshinone IIA restores CD8+ T-cell immunity in TNBC by suppressing the IDO1-kynurenine axis.

A hypothesis and evidence map for neuroimmune regulation of DOCK-family cytoskeletal programs in solid tumors.

Simultaneous DOTATATE uptake in three non-neuroendocrine pathologies: Follicular lymphoma, Crohn's disease, and vertebral hemangioma.

Related Experiment Videos

Prenatal diagnosis of type I hereditary tyrosinaemia

Related Concept Videos

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