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Publications by Kunal Thakkar

Phenotype–genotype Spectrum of AAA Syndrome From Western India and Systematic Review of Literature

Endocrine Connections

Internal Medicine

English

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

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Epidemiology of Sanfilippo Syndrome: Results of a Systematic Literature Review

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The Widening Spectrum of C9orf72-Related Disease; Genotype/Phenotype Correlations and Potential Modifiers of Clinical Phenotype

Acta Neuropathologica

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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

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Kabuki Syndrome: A Chinese Case Series and Systematic Review of the Spectrum of Mutations

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Prediction of Phenotype Information From Genotype Data

Communications in Information and Systems

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Autism Spectrum Disorder Diagnosis in Adults: Phenotype and Genotype Findings From a Clinically Derived Cohort

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A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Journal of Developmental and Behavioral Pediatrics

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Genotype-Phenotype Relationships and Endocrine Findings in Prader-Willi Syndrome

Frontiers in Endocrinology

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