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Publications by Nicola Longo
Mutations in ABCD4 Cause a New Inborn Error of Vitamin B12 Metabolism
Nature Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Impaired PIEZO1 Function in Patients With a Novel Autosomal Recessive Congenital Lymphatic Dysplasia
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Laboratory Diagnosis of Creatine Deficiency Syndromes: A Technical Standard and Guideline of the American College of Medical Genetics and Genomics
Genetics in Medicine
Medicine
Genetics
External Validation of the Preoperative Karakiewicz Nomogram in a Large Multicentre Series of Patients With Renal Cell Carcinoma
World Journal of Urology
Urology
Erratum to “Biparametric 3t Magnetic Resonance Imaging for Prostatic Cancer Detection in a Biopsy-Naïve Patient Population: A Further Improvement of PI-RADS V2? [Eur. J. Radiol. 85 (12) (2016) 2269–2274]”
European Journal of Radiology
Medicine
Nuclear Medicine
Radiology
Imaging
Glycerol Phenylbutyrate for the Maintenance Treatment of Patients With Deficiencies in Enzymes of the Urea Cycle
Expert Opinion on Orphan Drugs
Toxicology
Pharmaceutics
Pharmacology
Health Policy
A Case of Highly Aggressive Anaplastic Seminoma of the Testis Presenting as Fungating Scrotal Lesion
Archivio Italiano di Urologia Andrologia
Urology
Phase II Study of Sorafenib in Patients With Sunitinib-Refractory Metastatic Renal Cell Cancer
Journal of Clinical Oncology
Cancer Research
Medicine
Oncology
A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome
American Journal of Human Genetics
Genetics
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