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Publications by Lubica Dudakova

Analysis of KERA in Four Families With Cornea Plana Identifies Two Novel Mutations

Acta Ophthalmologica

English

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Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

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Novel Recessive PDZD7 Biallelic Mutations in Two Chinese Families With Non-Syndromic Hearing Loss

American Journal of Medical Genetics, Part A

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Analysis of ENG and ACVRL1 Genes in 137 HHT Italian Families Identifies 76 Different Mutations (24 Novel). Comparison With Other European Studies

Journal of Human Genetics

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Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness

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Transcobalamin II Deficiency in Four Cases With Novel Mutations

Turkish Journal of Haematology

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Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

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Novel Β-Crystallin Gene Mutations in Chinese Families With Nuclear Cataracts

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Identification of Novel LEPR Mutations in Pakistani Families With Morbid Childhood Obesity

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GWAS Identifies Four Novel Eosinophilic Esophagitis Loci

Nature Communications

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