Search filters

List of works by Mariateresa Falco

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

scientific article published on 4 July 2016

Celiac disease in type 1 diabetes mellitus

scientific article

Cerebral Accidents in Pediatric Diabetic Ketoacidosis: Different Complications and Different Evolutions

scientific article

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome

scientific article

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation

scientific article published on 28 September 2016

Glucose derangements in very young children with cystic fibrosis and pancreatic insufficiency

scientific article published on November 2012

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

article

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.

scientific article published on 21 March 2017

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

scientific article

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

scientific article

Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings

scientific article published on 4 January 2013

Paulina is supported by:

About Paulina

Help