Multidisciplinary clinical and translational approach for optimizing management for complex and rare conditions using Kabuki syndrome as example
Olaf A. Bodamer(Broad Institute), Rachel Gottlieb(Boston Children's Hospital), Tara Daly(Boston Children's Hospital), Christina Hung(Boston Children's Hospital), Xiaoting Ma(Boston Children's Hospital), Asma Rashid(Boston Children's Hospital), Emanuela Gussoni(Boston Children's Hospital)
Cited by 6
Related Papers
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
|New England Journal of Medicine|2019|823
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
|European Journal of Pediatrics|2007|535
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
|Nature Communications|2016|326
Phenylketonuria Scientific Review Conference: State of the science and future research needs
|Molecular Genetics and Metabolism|2014|271