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Found 19 publications

The Surgical Treatment of Robin Sequence: Neonatal Mandibular Distraction Osteogenesis in the Unfavorable Patient.

Potocki-Lupski Syndrome Dup17p11.2 in a Girl with Hypotonia and Early Behavioural Disturbances.

Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review.

Anesthetic Management of Treacher Collins Syndrome in an Outpatient Surgical Center.

Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type.

Anesthesia management of pediatric dentistry patients with cardiofaciocutaneous syndrome: a case report.

The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report.

Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ.

A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI).

Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome.

Showing 1-12 of 19