Luciana Musante
0000-0002-2742-1484
Publication & Citation Trends
Publications
0 total
The natural history of CDKL5 deficiency disorder into adulthood OA
Cited by 3
Semantic Scholar
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder OA
Cited by 1
Semantic Scholar
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Cited by 15
Semantic Scholar
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability OA
Cited by 16
Semantic Scholar
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders OA
Cited by 8
Semantic Scholar
Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures OA
Cited by 17
Semantic Scholar
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition OA
Cited by 5
Semantic Scholar
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients OA
Cited by 18
Semantic Scholar
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge OA
Cited by 11
Semantic Scholar
Table of Contents, Volume 188A, Number 9, September 2022
Cited by 0
Semantic Scholar
Research Topics
Genetics and Neurodevelopmental Disorders
(29)
Genomics and Rare Diseases
(22)
RNA modifications and cancer
(17)
Protein Tyrosine Phosphatases
(12)
Genomic variations and chromosomal abnormalities
(11)
Affiliations
South Australia Pathology
Max Planck Society
IRCCS Materno Infantile Burlo Garofolo
Women's and Children's Hospital
Istituto Giannina Gaslini