statistiche ricercatore

Nome	#
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder	143
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder	119
Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome	118
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients	94
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome	86
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria	84
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases	80
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014	68
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4	66
Totale	858

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	113	0	17	8	3	2	13	18	5	8	14	15	10
2020/2021	86	14	9	0	7	10	8	6	0	16	3	12	1
2021/2022	86	7	8	0	7	3	7	1	17	6	5	10	15
2022/2023	207	29	32	12	39	8	25	14	15	16	2	6	9
2023/2024	105	5	25	2	16	3	26	1	0	0	1	8	18
2024/2025	5	4	1	0	0	0	0	0	0	0	0	0	0
Totale													858

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