Intron 22 inversions and haemophilia

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Genome medicine·2025

Evaluating the Quality of Real-World Data on Adherence to Oral Endocrine Therapy in Breast Cancer Patients: How Real Is Real-World Data?

Cancers·2025

Induction avelumab followed by chemoimmunotherapy and maintenance versus chemotherapy alone as first-line therapy in cis-ineligible metastatic urothelial carcinoma (INDUCOMAIN): a randomized phase II study.

ESMO open·2024

[2022 Practice guidelines for the management of arterial hypertension of the Spanish Society of Hypertension].

Hipertension y riesgo vascular·2022

Novel APOB mutation in familial hypobetalipoproteinemia.

Journal of clinical lipidology·2021

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.

Platelets·2020

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Lancet (London, England)·2026

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Lancet (London, England)·2026

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Lancet (London, England)·2026

Divergent C. elegans toxin alleles are suppressed by distinct mechanisms.

eLife·2026

"Male Predominance and Pubertal Resolution in Vernal Keratoconjunctivitis: Exploring Associations with Ocular Surface Sex Steroid Intracrinology".

The ocular surface·2026

Social isolation upregulates takeout expression in female Drosophila melanogaster to promote sucrose preference.

PLoS genetics·2026

Interplay of βPS and βν integrins in Drosophila muscle functioning.

Gene·2026

Unilateral Thyroid Hypoplasia With Isthmic Absence and Presence of Pyramidal Lobe and Levator Glandulae Thyroidae: A Cadaveric Case Report.

Cureus·2026

Crystal structure of the NKX2-1 homeodomain bound to a palindromic DNA recognition sequence.

Acta crystallographica. Section F, Structural biology communications·2026

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Intron 22 inversions and haemophilia

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Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Evaluating the Quality of Real-World Data on Adherence to Oral Endocrine Therapy in Breast Cancer Patients: How Real Is Real-World Data?

Induction avelumab followed by chemoimmunotherapy and maintenance versus chemotherapy alone as first-line therapy in cis-ineligible metastatic urothelial carcinoma (INDUCOMAIN): a randomized phase II study.

[2022 Practice guidelines for the management of arterial hypertension of the Spanish Society of Hypertension].

Novel APOB mutation in familial hypobetalipoproteinemia.

Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis.

[177Lu]Lu-PSMA-617 in patients with PSMA-positive metastatic androgen pathway modulator-naive/sensitive prostate cancer (PSMAddition): a phase 3 randomised, controlled trial.

Multivessel coronary artery bypass grafting via small thoracotomy versus sternotomy (MIST): an investigator-initiated, international, open-label, randomised controlled trial.

Efficacy and safety of once-weekly subcutaneous zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Efficacy and safety of once-daily oral zenagamtide, a novel unimolecular GLP-1 and amylin receptor agonist, in adults with type 2 diabetes: a multicentre, randomised, parallel, double-blind, placebo-controlled, dose-finding, phase 2 trial.

Divergent C. elegans toxin alleles are suppressed by distinct mechanisms.

"Male Predominance and Pubertal Resolution in Vernal Keratoconjunctivitis: Exploring Associations with Ocular Surface Sex Steroid Intracrinology".

Social isolation upregulates takeout expression in female Drosophila melanogaster to promote sucrose preference.

Interplay of βPS and βν integrins in Drosophila muscle functioning.

Unilateral Thyroid Hypoplasia With Isthmic Absence and Presence of Pyramidal Lobe and Levator Glandulae Thyroidae: A Cadaveric Case Report.

Crystal structure of the NKX2-1 homeodomain bound to a palindromic DNA recognition sequence.

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Intron 22 inversions and haemophilia

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