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Publications by Mara Marongiu
Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1
American Journal of Human Genetics
Genetics
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Crisponi/Cold‐induced Sweating Syndrome: Differential Diagnosis, Pathogenesis and Treatment Concepts
Clinical Genetics
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Cold-Induced Sweating Syndrome
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by Mutations in the IFT140 Gene
Cilia
Cell Biology
Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase
American Journal of Human Genetics
Genetics
Is Benign Hereditary Chorea Really Benign? Brain-Lung-Thyroid Syndrome Caused by NKX2-1 Mutations
Movement Disorders Clinical Practice
Neurology
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
American Journal of Human Genetics
Genetics
Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14
American Journal of Human Genetics
Genetics
Profound, Prelingual Nonsyndromic Deafness Maps to Chromosome 10q21 and Is Caused by a Novel Missense Mutation in the Usher Syndrome Type IF Gene PCDH15
European Journal of Human Genetics
Genetics
Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy With Deafness, Is Caused by Mutations in C20orf54
American Journal of Human Genetics
Genetics
