statistiche ricercatore

Nome	#
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas	101
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations	75
Loss of CBL E3-ligase activity in B-lineage childhood acute lymphoblastic leukaemia	72
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype	69
Structural, functional, and clinical characterization of a novel PTPN11 mutation cluster underlying noonan syndrome	64
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects	63
null	60
Basi biologiche delle cardiopatie congenite	55
Parkinson disease genetics. A “continuum” from mendelian to multifactorial inheritance	55
null	41
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients	14
Myoclonic status and central fever in Angelman syndrome due to paternal uniparental disomy	11
Totale	680

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	118	0	0	0	0	0	18	25	15	19	25	10	6
2020/2021	68	6	13	4	5	3	1	0	2	17	12	2	3
2021/2022	101	0	3	11	5	16	1	1	15	7	8	12	22
2022/2023	100	19	29	5	6	11	10	0	4	12	1	3	0
2023/2024	53	4	11	2	7	0	5	2	7	0	7	3	5
2024/2025	58	3	1	8	4	26	16	0	0	0	0	0	0
Totale													680

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