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Publications by Stefania Abbruzzese

Electrophysiolocal Findings in Mohr-Tranebjærg Syndrome

Revista Brasileira de Oftalmologia

English

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A Case of Mohr-Tranebjærg Syndrome Diagnosed in a Patient With X-Linked Agammaglobulinemia

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First Report of a Filipino With Mohr-Tranebjaerg Syndrome

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Compound Heterozygous NEK1 Variants in Two Siblings With Oral-Facial-Digital Syndrome Type II (Mohr Syndrome)

European Journal of Human Genetics

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Imaging Findings in COACH Syndrome.

American Journal of Roentgenology

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Dermatoglyphic Findings in Poland's Syndrome.

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EEG Findings in Patients With Rett Syndrome

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Image Gallery: Cutaneous Findings in Hunter Syndrome

British Journal of Dermatology

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Ophthalmologic Findings in Cornelia De Lange Syndrome

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Distal Sudomotor Findings in Postural Tachycardia Syndrome

Clinical Autonomic Research

Autonomic Systems

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