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Publications by D. Schanze

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn With Previously Unreported Clinical Features

Molecular Syndromology

English

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Ocular Reconstruction in a Newborn With MOTA Syndrome

JOJ Ophthalmology

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Molecular Genetic Diagnosis and Clinical Features of Hereditary Neuropathy With Liability to Pressure Palsies

Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova

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Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

Frontiers in Genetics

Molecular Medicine

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Molecular Confirmation of HRAS p.G12S in Siblings With Costello Syndrome

American Journal of Medical Genetics, Part A

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Clinical and Molecular Features of Ewing Sarcoma in a Patient With Triple-X Syndrome

Cancer Genetics and Cytogenetics

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The Clinical and Genetic Features of COPD-asthma Overlap Syndrome

European Respiratory Journal

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Mothers’Experience of Attachment Care Prior to the Genetic Diagnosis for Their Newborn Infant With Down Syndrome

Yamaguchi Medical Journal

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Duane Retraction Syndrome: Clinical Features and Differential Diagnosis

Dicle Medical Journal / Dicle tıp Dergisi

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Previously Unreported Variation in the Innervation of the Psoas Major Muscle

Anatomy & Physiology

English