statistiche ricercatore

Nome	#
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association	58
Loss-of-function FANCL mutations associate with severe fanconi anemia overlapping the VACTERL association	53
RFC1 expansions are a common cause of idiopathic sensory neuropathy	45
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith–Lemli–Opitz syndrome	44
PSEN1 Compound Heterozygous Mutations Associated with Cerebral Amyloid Angiopathy and Cognitive Decline Phenotype	43
PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum	37
Histologic heterogeneity and syndromic associations of non-ampullary duodenal polyps and superficial mucosal lesions	36
Relationship between adverse effects of antiepileptic drugs, number of coprescribed drugs, and drug load in a large cohort of consecutive patients with drug-refractory epilepsy	33
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot	32
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic	32
Movement Disorders in Genetic Pediatric Ataxias	28
Genotype-phenotype correlates in Joubert syndrome: A review	20
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome	7
Totale	468

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	32	6	8	0	0	0	0	4	0	0	3	4	7
2020/2021	18	0	0	0	1	1	2	0	5	0	8	0	1
2021/2022	51	1	0	0	0	1	1	0	8	1	1	9	29
2022/2023	234	20	18	8	10	15	20	1	11	120	2	5	4
2023/2024	115	14	17	4	3	7	21	3	12	3	6	9	16
Totale													468