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Publications by EH Dutra

Two Novel Large ANKH Deletion Mutations in Sporadic Cases With Craniometaphyseal Dysplasia

Clinical Genetics

English

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Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation Into Osteoclasts

Stem Cell Reports

Developmental Biology

English

Craniometaphyseal Dysplasia

Acta Oto-Laryngologica

Otorhinolaryngology

English

Three Novel F8 Mutations in Sporadic Haemophilia a Cases

Multidisciplinary

English

220 Two Cases of Hypohidrotic Ectodermal Dysplasia Caused by Novel Mutations in the EDA Gene

Journal of Investigative Dermatology

Molecular Biology

English

Transcobalamin II Deficiency in Four Cases With Novel Mutations

Turkish Journal of Haematology

English

Two Cases of Maxillary Fibrous Dysplasia

Practica Otologica

Otorhinolaryngology

English

De Novo Mutations in Sporadic Deletional Duchenne Muscular Dystrophy (DMD) Cases

Experimental & Molecular Medicine

English

Two Cases of Septo-Optic Dysplasia (SOD)

Endocrine Journal

English

Two Cases of Sporadic Late Onset Nemaline Myopathy Effectively Treated With Immunotherapy

Clinical Neurology

English