statistiche ricercatore

Nome	#
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review	45
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy	43
Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation	40
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis	37
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes	32
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?	28
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity	27
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies	25
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease	24
Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells	23
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes	18
Totale	342

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2021/2022	9	0	0	0	0	0	0	0	4	1	0	1	3
2022/2023	14	4	0	0	0	0	1	0	0	9	0	0	0
2023/2024	23	1	0	0	7	3	4	0	1	0	1	0	6
2024/2025	132	10	14	0	0	3	3	16	2	34	4	16	30
2025/2026	164	34	24	33	25	45	3	0	0	0	0	0	0
Totale													342