216 research outputs found
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology (Nature Communications, (2020), 11, 1, (4589), 10.1038/s41467-020-18146-9)
No full textThe original version of this Article contained errors in the author affiliations. The affiliations of Nathalie Escande-Beillard and Bruno Reversade with ‘Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey’ were inadvertently omitted. This has now been corrected in both the PDF and HTML versions of the Article
IDENTIFICATION AND CHARACTERIZATION OF THE GENETIC AETIOLOGY OF A RARE DISEASE KNOWN AS ORAL-FACIAL-DIGITAL SYNDROME TYPE II OR MOHR SYNDROME
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LOSS-OF-FUNCTION MUTATIONS IN CARBOXYPEPTIDASE D CAUSE A NEW SYNDROME WITH LYMPHEDEMA AND SENSORINEURAL HEARING LOSS
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LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY
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THE USE OF PATIENT-SPECIFIC PLURIPOTENT STEM CELLS TO STUDY HUMAN NEURAL DISEASE
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ELABELA: A HORMONE ESSENTIAL FOR HEART DEVELOPMENT SIGNALS VIA THE APELIN RECEPTOR
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FUNCTIONAL NEUROGENETICS OF ERMIN AND RELEVANCE IN WHITE MATTER DISORDERS
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GENETIC AND FUNCTIONAL CHARACTERIZATION OF HEREDITARY INTRAOSSEOUS VASCULAR MALFORMATION
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