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Publications by Hamidreza Haghighi-Kakhki

Sengers Syndrome: Six Novel AGK Mutations in Seven New Families and Review of the Phenotypic and Mutational Spectrum of 29 Patients

Orphanet Journal of Rare Diseases

English

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Molecular Analysis of HPRT Deficiencies: Six Novel Mutations and the Spectrum of Asian Mutations

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The Comprehensive Mutational and Phenotypic Spectrum of TUBB8 in Female Infertility

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The Mutational Spectrum of Lynch Syndrome in Cyprus

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

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Genetic Classification and Mutational Spectrum of More Than 600 Patients With a Zellweger Syndrome Spectrum Disorder

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies

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

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The Clinical and Mutational Spectrum of Turkish Patients With Cystinosis

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Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

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