Genetic testing, common diseases, and health service provision

Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Clinical genetics·2017

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

Journal of genetic counseling·2015

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Muscle & nerve. Supplement·2013

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

Muscle & nerve. Supplement·2013

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

Journal of neurology, neurosurgery, and psychiatry·2006

Population based study of late onset cerebellar ataxia in south east Wales.

Journal of neurology, neurosurgery, and psychiatry·2004

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Lancet (London, England)·2026

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Lancet (London, England)·2026

Switch to once-weekly, single-tablet islatravir-lenacapavir from daily standard of care for HIV-1 (ISLEND-2): a multicentre, randomised, open-label, active-controlled, phase 3 non-inferiority trial.

Lancet (London, England)·2026

[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

A Bilateral Primary Non-refluxing Non-obstructed Megaureter Presenting as Chronic Flank Pain in an Adult Female Patient: A Case Report.

Cureus·2026

Bilateral adrenal infarction in pregnancy: a diagnostic challenge (a case report).

The Pan African medical journal·2026

Characterizing menstrual health and education needs among menstruating adolescents: A cross-sectional study on dysmenorrhea, cycle irregularities, and menstrual education.

Dialogues in health·2026

Intraovarian steroidogenesis in women with endometriosis undergoing IVF.

Reproductive biomedicine online·2026

Cardiac Myxoma Causing Left Ventricular Outflow Tract Obstruction and Syncope in Rural Tanzania.

JACC. Case reports·2026

Retroperitoneal ectopic pregnancy: A narrative review proposing diagnostic criteria, surgical anatomical classification and an institutional management algorithm.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics·2026

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Genetic testing, common diseases, and health service provision

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Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

Population based study of late onset cerebellar ataxia in south east Wales.

Efficacy and safety of upadacitinib in adults and adolescents for treatment of non-segmental vitiligo (Viti-Up): results of two phase 3 randomised controlled studies.

Belzutifan plus lenvatinib versus cabozantinib in patients with previously treated advanced renal cell carcinoma (LITESPARK-011): an open-label, randomised, controlled, phase 3 trial.

Switch to once-weekly, single-tablet islatravir-lenacapavir from daily standard of care for HIV-1 (ISLEND-2): a multicentre, randomised, open-label, active-controlled, phase 3 non-inferiority trial.

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

A Bilateral Primary Non-refluxing Non-obstructed Megaureter Presenting as Chronic Flank Pain in an Adult Female Patient: A Case Report.

Bilateral adrenal infarction in pregnancy: a diagnostic challenge (a case report).

Characterizing menstrual health and education needs among menstruating adolescents: A cross-sectional study on dysmenorrhea, cycle irregularities, and menstrual education.

Intraovarian steroidogenesis in women with endometriosis undergoing IVF.

Cardiac Myxoma Causing Left Ventricular Outflow Tract Obstruction and Syncope in Rural Tanzania.

Retroperitoneal ectopic pregnancy: A narrative review proposing diagnostic criteria, surgical anatomical classification and an institutional management algorithm.

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Genetic testing, common diseases, and health service provision

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