Letter: Prenatal diagnosis of Tay-Sachs disease

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

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

Related Experiment Videos

Letter: Prenatal diagnosis of Tay-Sachs disease

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

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.

Related Experiment Videos

Letter: Prenatal diagnosis of Tay-Sachs disease

Related Concept Videos

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