Prenatal diagnosis of congenital adrenal hyperplasia

The face of Smith-Magenis syndrome: a subjective and objective study.

Journal of medical genetics·1999

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.

The New England journal of medicine·1999

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

American journal of medical genetics·1998

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

American journal of medical genetics·1998

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

American journal of medical genetics·1998

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

American journal of human genetics·1997

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

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

Lancet (London, England)·2026

A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.

Clinical laboratory·2026

Incidence, Risk Factors and Mortality of Hospitalization Among Late Preterm Neonates at Jinja and Kayunga Regional Referral Hospitals, Eastern Uganda, Prospective Study.

Pediatric health, medicine and therapeutics·2026

Profile of Neonates Admitted With Hypoxic-Ischemic Encephalopathy and Early Neurodevelopment Outcomes: A Retrospective Cohort Study.

Journal of paediatrics and child health·2026

Parvovirus B19 infections in paediatric sickle cell disease patients: Genotype and hydroxyurea treatment influence disease severity.

British journal of haematology·2026

Neonatal Capillary Blood Sampling Procedure: A Scoping Review.

Hospital pediatrics·2026

A Rare Case Report of Nosocomial Urosepsis due to Klebsiella pneumoniae in a Preterm Neonate Complicated by Acute Cystitis.

Case reports in infectious diseases·2026

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Prenatal diagnosis of congenital adrenal hyperplasia

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The face of Smith-Magenis syndrome: a subjective and objective study.

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

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.

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

A Case of a Fetus with a Chimeric Duplication of 9p21.1p13.1 and a Normal Pregnancy Outcome.

Incidence, Risk Factors and Mortality of Hospitalization Among Late Preterm Neonates at Jinja and Kayunga Regional Referral Hospitals, Eastern Uganda, Prospective Study.

Profile of Neonates Admitted With Hypoxic-Ischemic Encephalopathy and Early Neurodevelopment Outcomes: A Retrospective Cohort Study.

Parvovirus B19 infections in paediatric sickle cell disease patients: Genotype and hydroxyurea treatment influence disease severity.

Neonatal Capillary Blood Sampling Procedure: A Scoping Review.

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Prenatal diagnosis of congenital adrenal hyperplasia

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