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Publications by N A Monk

A De Novo Insertion, Detected Prenatally, With Normal Phenotype.

Journal of Medical Genetics

English

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De Novo VHL Germline Mutation Detected in a Patient With Mild Clinical Phenotype of Von Hippel-Lindau Disease

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OP07.08: Preoperative Neurosonography in Neonates With Prenatally Detected Congenital Heart Defects

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EP08.10: Neurodevelopmental Outcome of Prenatally Detected Periventricular Pseudocysts

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P20.08: Correlation of Fetal Ultrasonographic Findings in Prenatally Diagnosed De Novo Balanced Translocations

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Prenatally Diagnosed Partial Trisomy 3q Case With an Omphalocele and Less Severe Phenotype

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Mild Epileptic Phenotype Associates With De Novo Eef1a2 Mutation: Case Report and Review

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Transposon Insertion Finder (TIF): A Novel Program for Detection of De Novo Transpositions of Transposable Elements

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A Cooperação Chinesa Para O Desenvolvimento De Tecnologias Verdes Frente Ao “Novo Normal”

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De Novo Insertion of an Intron Into the Mammalian Sex Determining Gene, SRY

Proceedings of the National Academy of Sciences of the United States of America

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