statistiche ricercatore

Nome	#
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations	42
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD	40
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay	38
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant	33
Patient preferences in genetic newborn screening for rare diseases: study protocol	32
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients	32
Natural history of KBG syndrome in a large European cohort	30
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing	30
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes	28
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures	27
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes (Front. Oncol., (2021), 11, 10.3389/fonc.2021.649435)	26
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals	23
Totale	381

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2023/2024	61	0	0	0	0	0	0	0	0	37	5	7	12
2024/2025	320	14	41	30	16	31	55	36	16	18	63	0	0
Totale													381

Bicocca Open Archive