statistiche ricercatore

Continente	#
AS - Asia	738
NA - Nord America	518
EU - Europa	391
SA - Sud America	85
Continente sconosciuto - Info sul continente non disponibili	55
AF - Africa	24
OC - Oceania	3
Totale	1.814

Nome	#
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting	198
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia	193
Expanding the spectrum of neonatal-onset AIFM1-associated disorders	179
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3	169
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions	165
Current and new next-generation sequencing approaches to study mitochondrial DNA	149
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I	133
Variants in ATP5F1B are associated with dominantly inherited dystonia	118
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects	116
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation	109
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions	102
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases	95
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases	88
Totale	1.814

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2021/2022	54	0	2	8	2	2	1	1	4	11	7	3	13
2022/2023	88	9	4	6	5	18	15	1	9	11	1	8	1
2023/2024	141	7	15	9	7	39	7	14	6	1	6	9	21
2024/2025	405	8	27	5	45	40	34	16	30	38	33	46	83
2025/2026	1.054	109	93	84	129	73	70	111	52	83	48	108	94
2026/2027	72	72	0	0	0	0	0	0	0	0	0	0	0
Totale													1.814

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