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Publications by Cristiano Guimarães Kozuki
Consanguinity and Geographic Origin of Patients With Autosomal Recessive Metabolic Disorders Evaluated in a Reference Service in Campinas, Brazil
Journal of Inborn Errors of Metabolism and Screening
Child Health
Genetics
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Related publications
Anaesthesia in a Child With Autosomal Recessive Omodysplasia
Anaesthesia and Intensive Care
Critical Care
Anesthesiology
Pain Medicine
Intensive Care Medicine
Impaired PIEZO1 Function in Patients With a Novel Autosomal Recessive Congenital Lymphatic Dysplasia
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Birth Prevalence and Mutation Spectrum in Danish Patients With Autosomal Recessive Albinism
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
High Prevalence of Mutations in theEYSGene in Japanese Patients With Autosomal Recessive Retinitis Pigmentosa
Investigative Ophthalmology and Visual Science
Molecular Neuroscience
Ophthalmology
Sensory Systems
Cellular
Autosomal Recessive Brachyolmia
Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders
Journal of the American Academy of Dermatology
Dermatology
Autosomal Recessive Bestrophinopathy
Umbilical Cord Hernia in a Child With Autosomal Recessive Chondrodysplasia Punctata.
Journal of Medical Genetics
Genetics
Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation
Journal of Medical Genetics
Genetics
