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Publications by Ros M Quinlivan
Malan Syndrome: Sotos-Like Overgrowth With De Novo NFIX Sequence Variants and Deletions in Six New Patients and a Review of the Literature
European Journal of Human Genetics
Genetics
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Refining the Primrose Syndrome Phenotype: A Study of Five Patients With ZBTB20 De Novo Variants and a Review of the Literature
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Analysis of the NSD1 Promoter Region in Patients With a Sotos Syndrome Phenotype
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De Novo Variants in Congenital Diaphragmatic Hernia Identify MYRF as a New Syndrome and Reveal Genetic Overlaps With Other Developmental Disorders
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Management of Pregnancy in Patients With Exstrophy-Epispadias Sequence: A Case Series and Literature Review
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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
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Scleroderma-Like Syndrome in a Woman With Silicone Breast Implants – Case Report and Critical Review of the Literature
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Horseshoe Adrenal Gland in Association With Asplenia: Presentation of Six New Cases and Review of the Literature
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
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A Case of Seizure-Like Movements and Atypical Electrocardiographic Changes During the Induction of Anesthesia in a Child With Suspected Sotos Syndrome
THE JOURNAL OF JAPAN SOCIETY FOR CLINICAL ANESTHESIA
