Publications by authors named "Alvaro Serrano Russi"

4Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

8-Month-Old Boy with Ataxia after Ingestion of Cow's Milk.

Clin Chem 2018 03;64(3):611-613

Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2017.277954DOI Listing
March 2018

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Genet Res Int 2011 17;2011:185271. Epub 2011 Jul 17.

Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/gri/2011/185271/
Publisher Site
http://dx.doi.org/10.4061/2011/185271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335458PMC
August 2012