Current themes in molecular pediatrics: molecular medicine and its applications

por Superti-Furga, Andrea, Garavelli, Livia
Publicado 2010

Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis

por Schützle, Heike, Forster, Johannes, Superti-Furga, Andrea, Berner, Reinhard
Publicado 2008

Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

por Gariani, Karim, Nascimento, Marina, Superti-Furga, Andrea, Tran, Christel
Publicado 2020

Skeletal Dysplasias Caused by Sulfation Defects

por Paganini, Chiara, Gramegna Tota, Chiara, Superti-Furga, Andrea, Rossi, Antonio
Publicado 2020

Overweight and obesity in adult patients with phenylketonuria: a systematic review

por Tankeu, Aurel T., Pavlidou, Despina Christina, Superti-Furga, Andrea, Gariani, Karim, Tran, Christel
Publicado 2023

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocatio...

por Hinrichs, Timo, Superti-Furga, Andrea, Scheiderer, Wolf-Dieter, Bonafé, Luisa, Brenner, Rolf E, Mattes, Thomas
Publicado 2010

Spinal cerebrotendinous xanthomatosis: A case report and literature review

por Atallah, Isis, Millán, Diego San, Benoît, Wicki, Campos-Xavier, Belinda, Superti-Furga, Andrea, Tran, Christel
Publicado 2021

Elevated lactate in Mauriac syndrome: still a mystery

por Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel
Publicado 2021

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

por Royer-Bertrand, Beryl, Cisarova, Katarina, Niel-Butschi, Florence, Mittaz-Crettol, Laureane, Fodstad, Heidi, Superti-Furga, Andrea
Publicado 2021

Correction to: Elevated lactate in Mauriac syndrome: still a mystery

por Touilloux, Brice, Lu, Henri, Campos-Xavier, Belinda, Superti-Furga, Andrea, Hauschild, Michael, Bouthors, Thérèse, Tran, Christel
Publicado 2021

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

por Meazza, Cristina, Lausch, Ekkehard, Pagani, Sara, Bozzola, Elena, Calcaterra, Valeria, Superti-Furga, Andrea, Silengo, Margherita, Bozzola, Mauro
Publicado 2013

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

por Good, Jean-Marc, Atallah, Isis, Castro Jimenez, Mayte, Benninger, David, Kuntzer, Thierry, Superti-Furga, Andrea, Tran, Christel
Publicado 2021

Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4

por Ur Rehman, Atta, Peter, Virginie G., Quinodoz, Mathieu, Rashid, Abdur, Khan, Syed Akhtar, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2019

Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation

por Härter, Bettina, Benedicenti, Francesco, Karall, Daniela, Lausch, Ekkehard, Schweigmann, Gisela, Stanzial, Franco, Superti‐Furga, Andrea, Scholl‐Bürgi, Sabine
Publicado 2020

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome

por Gioia, Silvio Alessandro Di, Bedoni, Nicola, von Scheven-Gête, Annette, Vanoni, Federica, Superti-Furga, Andrea, Hofer, Michaël, Rivolta, Carlo
Publicado 2015

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Nove...

por Kumps, Camille, Campos-Xavier, Belinda, Hilhorst-Hofstee, Yvonne, Marcelis, Carlo, Kraenzlin, Marius, Fleischer, Nicole, Unger, Sheila, Superti-Furga, Andrea
Publicado 2020

Classical homocystinuria, is it safe to exercise?

por Tankeu, Aurel T., Van Winckel, Geraldine, Campos-Xavier, Belinda, Braissant, Olivier, Pedro, Rosette, Superti-Furga, Andrea, Amati, Francesca, Tran, Christel
Publicado 2021

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants

por Lebon, Sébastien, Quinodoz, Mathieu, Peter, Virginie G., Gengler, Carole, Blanchard, Gaëlle, Cina, Viviane, Campos-Xavier, Belinda, Rivolta, Carlo, Superti-Furga, Andrea
Publicado 2021

Case Report: A Rare Truncating Variant of the CFHR5 Gene in IgA Nephropathy

por Guzzo, Gabriella, Sadallah, Salima, Fodstad, Heidi, Venetz, Jean-Pierre, Rotman, Samuel, Teta, Daniel, Gauthier, Thierry, Pantaleo, Giuseppe, Superti-Furga, Andrea, Pascual, Manuel
Publicado 2021

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

por Quinodoz, Mathieu, Peter, Virginie G., Cisarova, Katarina, Royer-Bertrand, Beryl, Stenson, Peter D., Cooper, David N., Unger, Sheila, Superti-Furga, Andrea, Rivolta, Carlo
Publicado 2022