statistiche ricercatore

Nome	#
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes	82
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome	81
Sprengel anomaly in deletion 22q11.2 (DiGeorge/Velo-Cardio-Facial) syndrome	74
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis	69
The "Old Theme" of Variability Versus Transitory Phenotypes in Thanatophoric Dysplasia Type 1: Two 19-Week-Old Fetuses With ("San Diego" Variant) and Without Ragged Metaphyses Due to the Same FGFR3 Mutation	57
TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy	57
Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: Is there a link between African iron overload and TFR2 dysfunction?	52
Dominant {ARF}3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish	42
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants	31
null	27
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum	13
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction	11
POGZ-related epilepsy. Case report and review of the literature	8
Totale	604

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	127	14	5	0	11	15	13	18	16	16	9	5	5
2020/2021	38	2	6	1	1	0	1	1	4	3	10	4	5
2021/2022	91	3	5	12	0	9	1	3	11	4	7	10	26
2022/2023	129	15	30	9	10	8	21	3	11	8	8	6	0
2023/2024	107	7	14	3	15	9	18	6	3	4	13	6	9
2024/2025	2	2	0	0	0	0	0	0	0	0	0	0	0
Totale													604

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