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Publications by Carlos Ferrándiz

Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

American Journal of Human Genetics

English

Expression Profiles Associated With Aggressive Behavior in Merkel Cell Carcinoma

Modern Pathology

Forensic Medicine

English

Related publications

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

Nature Genetics

English

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal Degeneration

American Journal of Human Genetics

English

Novel Truncation Mutations in MYRF Cause Autosomal Dominant High Hyperopia Mapped to 11p12–q13.3

English

Novel Cationic Trypsinogen (PRSS1) N29T and R122C Mutations Cause Autosomal Dominant Hereditary Pancreatitis

Gastroenterology

English

Autosomal-Dominant Hypotrichosis With Woolly Hair: Novel Gene Locus on Chromosome 4q35.1-Q35.2

Multidisciplinary

English

Founder Mutations in the Lipase H Gene in Families With Autosomal Recessive Woolly Hair/Hypotrichosis

Journal of Investigative Dermatology

Molecular Biology

English

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English