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Last Updated: 09/18/2022

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Found 18 publications

Muscle involvement with pseudohypertrophy in systemic light chain amyloidosis: Case report.

Summary: Muscle involvement with pseudohypertrophy in systemic light chain amyloidosis: Case report.

A rare case of reverse midgut rotation and jejunal transmesenteric internal hernia in an adult with Beckwith-Wiedemann syndrome.

Summary: A rare case of reverse midgut rotation and jejunal transmesenteric internal hernia in an adult with Beckwith-Wiedemann syndrome.

Familial Amyloidotic Polyneuropathy Type 1: A Hereditary Legacy.

Summary: Familial Amyloidotic Polyneuropathy Type 1: A Hereditary Legacy.

Case Report: Liraglutide for Weight Management in Beckwith-Wiedemann Syndromic Obesity.

Summary: Case Report: Liraglutide for Weight Management in Beckwith-Wiedemann Syndromic Obesity.

Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome.

Summary: Fetal Beckwith-Wiedemann syndrome associated with abnormal quad test, placental mesenchymal dysplasia and HELLP syndrome.

Supraglottic foreign body in a woman with Down's syndrome and congenital heart disease: A case report.

Summary: Supraglottic foreign body in a woman with Down's syndrome and congenital heart disease: A case report.

A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Summary: A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.

Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

Summary: Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Summary: Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Lingual compression for acute macroglossia in a COVID-19 positive patient.

Summary: Lingual compression for acute macroglossia in a COVID-19 positive patient.

Children with Down syndrome and mild OSA: treatment with medication versus observation.

Summary: Children with Down syndrome and mild OSA: treatment with medication versus observation.

Macroglossia in primary lateral sclerosis: a case report.

Summary: Macroglossia in primary lateral sclerosis: a case report.
Showing 1-12 of 18

Last Updated: 09/18/2022