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Publications by Petr Janousek

Phenotypic Variability of Patients Homozygous for the GJB2 Mutation 35delG Cannot Be Explained by the Influence of One Major Modifier Gene

European Journal of Human Genetics

English

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Rapid Detection of the 35delG Mutation in the GJB2 Gene in Childhood Deafness

Journal of Medical Screening

Occupational Health

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A Common Founder for the 35delG GJB2 Gene Mutation in Connexin 26 Hearing Impairment

Journal of Medical Genetics

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Frequency of C.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients With Nonsyndromic Hearing Impairment

Genetics Research International

Molecular Biology

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Hypothesis of the Conjunct Expression Gene: Can Random Mutation Explain the Phenotypic Variability?

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Hemophilia A: Different Phenotypes May Be Explained by Multiple and Variable Effects of the Causative Mutation in the F8 Gene

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A Novel Homozygous Mutation of GJB2—A New Variant of Keratitis-Ichthyosis-Deafness Syndrome?

JAAD Case Reports

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Vestibular Dysfunction in the Epistatic Circler Mouse Is Caused by Phenotypic Interaction of One Recessive Gene and Three Modifier Genes

Genome Research

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Unauffälliges UNHS-Screening Bei Einem Homozygoten Träger Der 35delG-Mutation Im Connexin 26 Kodierenden Gjb2-Gen

Monatsschrift fur Kinderheilkunde

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The Compliance of Clinicians and Patients Cannot Be Globalized

Clinical Microbiology and Infection

Infectious Diseases

English