Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case

The cool brown dwarf Gliese 229 B is a close binary.

Nature·2024

High dose craniospinal irradiation as independent risk factor of permanent alopecia in childhood medulloblastoma survivors: cohort study and literature review.

Journal of neuro-oncology·2022

Analysis of the haemophilia A mutation in sporadic patients registered at the Royal London Hospital and their families.

Haemophilia : the official journal of the World Federation of Hemophilia·2016

Second-line treatment with intravenous gemcitabine and oral etoposide in platinum-resistant advanced ovarian cancer patients: results of a phase II study.

Oncology·2011

Detection of mutations in hemophilia a patients by chemical cleavage of mismatch method.

Methods in molecular medicine·2011

Effectiveness and tolerability of levonorgestrel intrauterine system in adolescents.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology·2010

8 weeks versus 12 weeks of sofosbuvir-velpatasvir for treatment-naive, non-cirrhotic, chronic hepatitis C (RESOLVE): a multicentre, open-label, non-inferiority, randomised controlled trial in India.

Lancet (London, England)·2026

Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

Lancet (London, England)·2026

A trembling detour to the diagnosis of encephalitis: a neuroborreliosis case report.

Lancet (London, England)·2026

Retatrutide in adults with obesity and type 2 diabetes (TRIUMPH-2): a double-blind, parallel-group, randomised, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Radiotherapy versus observation following surgical resection of WHO grade 2 atypical meningioma (ROAM/EORTC-1308): an international, multicentre, open-label, phase 3, randomised controlled trial.

Lancet (London, England)·2026

A context-specific evaluation of polygenic embryo screening in best-prognosis preimplantation genetic testing cycles.

Human reproduction open·2026

Familial 46,XY disorder of sex development due to a novel CYB5A variant: a rare cause of isolated 17,20-lyase deficiency.

JCEM case reports·2026

Cumulative live birth following preimplantation genetic testing for aneuploidy versus conventional IVF/ICSI in unexplained recurrent pregnancy loss: a retrospective cohort study with intention-to-treat and per-protocol analyses.

Frontiers in endocrinology·2026

Cleavage-stage stratification reveals the clinical and developmental potential of 0PN embryos compared with 2PN embryos in IVF.

Frontiers in endocrinology·2026

Predicting of early miscarriage based on machine learning: a retrospective cohort study in China.

BMC pregnancy and childbirth·2026

Cell Free DNA Whole Genome in Clinical Practice: A Single Center Seven-Year Experience.

Prenatal diagnosis·2026

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Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case

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The cool brown dwarf Gliese 229 B is a close binary.

High dose craniospinal irradiation as independent risk factor of permanent alopecia in childhood medulloblastoma survivors: cohort study and literature review.

Analysis of the haemophilia A mutation in sporadic patients registered at the Royal London Hospital and their families.

Second-line treatment with intravenous gemcitabine and oral etoposide in platinum-resistant advanced ovarian cancer patients: results of a phase II study.

Detection of mutations in hemophilia a patients by chemical cleavage of mismatch method.

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Cardiovascular safety of orforglipron versus insulin glargine in adults with type 2 diabetes at increased cardiovascular risk (ACHIEVE-4): a phase 3, event-driven, randomised, open-label, non-inferiority, active comparator trial.

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Retatrutide in adults with obesity and type 2 diabetes (TRIUMPH-2): a double-blind, parallel-group, randomised, placebo-controlled, phase 3 trial.

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial.

Radiotherapy versus observation following surgical resection of WHO grade 2 atypical meningioma (ROAM/EORTC-1308): an international, multicentre, open-label, phase 3, randomised controlled trial.

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Familial 46,XY disorder of sex development due to a novel CYB5A variant: a rare cause of isolated 17,20-lyase deficiency.

Cumulative live birth following preimplantation genetic testing for aneuploidy versus conventional IVF/ICSI in unexplained recurrent pregnancy loss: a retrospective cohort study with intention-to-treat and per-protocol analyses.

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Prenatal diagnosis of xeroderma pigmentosum. Report of the first successful case

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