Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M Hufner

Variability of Endocrinological Dysfunction in 55 Patients With X-Linked Adrenoleucodystrophy: Clinical, Laboratory and Genetic Findings

European Journal of Endocrinology

English

Related publications

Clinical and Laboratory Findings in 8 Patients With Bloom's Syndrome

Journal of Dermatological Case Reports

English

X‐linked Ichthyosis: Molecular Findings in Four Pedigrees With Inconspicuous Clinical Manifestations

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English

Clinical and Radiographic Dental Findings in X Linked Hypohidrotic Ectodermal Dysplasia.

Journal of Medical Genetics

English

Correlation of Clinical and Genetic Findings in Hungarian Patients With Stargardt Disease

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Clinical and Oculographic Findings of X-Linked Congenital Nystagmus in Three Korean Families

Journal of Clinical Neurology (Korea

English

Clinical Characteristics and Phenotype Distribution in 10 Chinese Patients With X‑linked Adrenoleukodystrophy

Experimental and Therapeutic Medicine

Cancer Research

English

Clinical and Genetic Aspects of the X Linked Hydrocephalus/Masa Spectrum

Journal of Medical Genetics

English

Clinical, Laboratory and Neuroimaging Findings in Patients With Sarcoidosis Involving the CNS: Study of 29 Cases

Journal of Neurology and Experimental Neuroscience

English

X-Linked Lymphoproliferative Syndrome in Mainland China: Review of Clinical, Genetic, and Immunological Characteristic

European Journal of Pediatrics

English