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Publications by Denise Horn

Duplication of PTHLH Causes Osteochondroplasia With a Combined Brachydactyly Type E/A1 Phenotype With Disturbed Bone Maturation and Rhizomelia

European Journal of Human Genetics
Genetics
2016English

Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome

European Journal of Human Genetics
Genetics
2014English

Kagami‐Ogata Syndrome: An Important Differential Diagnosis to Beckwith‐Wiedemann Syndrome

Journal of Clinical Ultrasound
Nuclear MedicineRadiologyImaging
2020English

Thrombocytopenia-Absent Radius Syndrome

2014English

Severely Incapacitating Mutations in Patients With Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

American Journal of Human Genetics
Genetics
2005English

Novel Mutations in BCOR in Three Patients With Oculo-Facio-Cardio-Dental Syndrome, but None in Lenz Microphthalmia Syndrome

European Journal of Human Genetics
Genetics
2005English

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