statistiche ricercatore

Nome	#
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma	14
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening	13
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children	10
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	7
3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus	7
Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights	6
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force	5
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement	5
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis	4
Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?	3
A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders	2
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue	2
Totale	78

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2022/2023	26	0	0	0	0	10	8	0	2	5	0	1	0
2023/2024	52	0	0	0	0	12	6	1	0	7	4	8	14
Totale													78

CRIS Current Research Information System