1.
Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA
by Sanyoura, May
The journal of clinical endocrinology and metabolism, 2017-08-18, Vol.103 (1), p.35-45
2.
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
by Li, Zejuan
Journal of human genetics, 2015-07, Vol.60 (7), p.363-369
3.
Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency
by Moretti, Paolo
Journal of autism and developmental disorders, 2007-11-20, Vol.38 (6), p.1170-1177
4.
Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
by Helgeson, Maria
Journal of human genetics, 2018-03, Vol.63 (3), p.349-356
5.
Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes
by Johnson, Amy Knight
Personalized medicine, 2014-03-01, Vol.11 (2), p.155-165
6.
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
by Oshima, Junko
Journal of human genetics, 2011-07, Vol.56 (7), p.516-523
7.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males
by del Gaudio, Daniela
Genetics in medicine, 2006-12, Vol.8 (12), p.784-792
8.
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
by Sahoo, Trilochan
Genetics in medicine, 2006-11, Vol.8 (11), p.719-727
9.
Liver damage in obese patients
by Del Gaudio, Antonio
Obesity surgery, 2002-12, Vol.12 (6), p.802-804
