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Publications by Richard H Scott
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
Related publications
Refining the Primrose Syndrome Phenotype: A Study of Five Patients With ZBTB20 De Novo Variants and a Review of the Literature
American Journal of Medical Genetics, Part A
Genetics
Analysis of the NSD1 Promoter Region in Patients With a Sotos Syndrome Phenotype
Journal of Human Genetics
Genetics
De Novo Variants in Congenital Diaphragmatic Hernia Identify MYRF as a New Syndrome and Reveal Genetic Overlaps With Other Developmental Disorders
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
Management of Pregnancy in Patients With Exstrophy-Epispadias Sequence: A Case Series and Literature Review
Proceedings in Obstetrics and Gynecology
NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes
American Journal of Human Genetics
Genetics
Scleroderma-Like Syndrome in a Woman With Silicone Breast Implants – Case Report and Critical Review of the Literature
Reumatologia
Rheumatology
Allergy
Immunology
Horseshoe Adrenal Gland in Association With Asplenia: Presentation of Six New Cases and Review of the Literature
Pediatric Radiology
Nuclear Medicine
Radiology
Child Health
Perinatology
Imaging
Pediatrics
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
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
