Prenatal diagnosis of cystic fibrosis

A general method for the detection of large CAG repeat expansions by fluorescent PCR.

Journal of medical genetics·1996

Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group.

Lancet (London, England)·1996

Friedreich's ataxia, with retained lower limb tendon reflexes, in a Saudi Arabian family.

Clinical neurology and neurosurgery·1996

Prenatal screening for cystic fibrosis: 5 years' experience reviewed.

Lancet (London, England)·1996

[Ethical reflections].

Bulletin de l'Academie nationale de medecine·1995

Huntington's disease in a Sudanese family from Khartoum.

Human genetics·1995

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Lancet (London, England)·2026

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Lancet (London, England)·2026

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Lancet (London, England)·2026

Perioperative durvalumab plus fluorouracil, leucovorin, oxaliplatin, and docetaxel for resectable gastric and gastro-oesophageal junction adenocarcinoma (MATTERHORN): final results of overall survival and event-free survival by pathological response in a global, randomised, double-blind, placebo-controlled, multicentre, phase 3 trial.

Lancet (London, England)·2026

Congenital Heart Defects in Kabuki Syndrome: Perioperative and Long-Term Outcomes from a 25-Year Single-Center Experience.

World journal for pediatric & congenital heart surgery·2026

Comparability of Total Bilirubin methods for neonatal samples across 6 NHS trusts within North West England.

Annals of clinical biochemistry·2026

Triggers, Clinical Manifestations, and Management of Pediatric Erythema Nodosum: A Systematic Review.

Pediatric dermatology·2026

Preterm birth disrupts nephron progenitor cell dynamics predisposing to renal disease.

iScience·2026

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.

JIMD reports·2026

Hairy Polyp Causing Infant Respiratory Distress: A Case Report.

Cureus·2026

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Prenatal diagnosis of cystic fibrosis

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A general method for the detection of large CAG repeat expansions by fluorescent PCR.

Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group.

Friedreich's ataxia, with retained lower limb tendon reflexes, in a Saudi Arabian family.

Prenatal screening for cystic fibrosis: 5 years' experience reviewed.

[Ethical reflections].

Huntington's disease in a Sudanese family from Khartoum.

Most-favoured-nation pricing for prescription drugs in US Medicare: a cohort study.

Immunogenicity of fractional one-fifth and one-half doses of 17DD yellow fever vaccine compared with full dose in children aged 9-23 months in Uganda: a phase 4, single-blind, randomised clinical trial.

Efficacy and safety of mitapivat in adults with transfusion-dependent α-thalassaemia or β-thalassaemia (ENERGIZE-T): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial.

Congenital Heart Defects in Kabuki Syndrome: Perioperative and Long-Term Outcomes from a 25-Year Single-Center Experience.

Comparability of Total Bilirubin methods for neonatal samples across 6 NHS trusts within North West England.

Triggers, Clinical Manifestations, and Management of Pediatric Erythema Nodosum: A Systematic Review.

Preterm birth disrupts nephron progenitor cell dynamics predisposing to renal disease.

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.

Hairy Polyp Causing Infant Respiratory Distress: A Case Report.

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Prenatal diagnosis of cystic fibrosis

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