Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Andrea Superti-Furga

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

American Journal of Human Genetics
Genetics
2012English

The Dark Sides of Capillary Morphogenesis Gene 2

EMBO Journal
ImmunologyMolecular BiologyBiochemistryMicrobiology NeuroscienceMedicineGenetics
2011English

Brief Report: Peripheral Osteolysis in Adults Linked toASAH1(Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Arthritis and Rheumatology
RheumatologyAllergyImmunology
2016English

Analysis of the Genetic Basis of Periodic Fever With Aphthous Stomatitis, Pharyngitis and Cervical Adenitis (PFAPA) Syndrome

Scientific Reports
Multidisciplinary
2015English

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

American Journal of Human Genetics
Genetics
2008English

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

American Journal of Human Genetics
Genetics
2009English

Prenatal Diagnosis of Collagen Disorders by Direct Biochemical Analysis of Chorionic Villus Biopsies

Pediatric Research
Child HealthPediatricsPerinatology
1994English

Mucolipidosis II Presenting as Severe Neonatal Hyperparathyroidism

European Journal of Pediatrics
Child HealthPediatricsPerinatology
2004English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy