statistiche ricercatore

Continente	#
NA - Nord America	1.452
AS - Asia	168
EU - Europa	159
Continente sconosciuto - Info sul continente non disponibili	1
Totale	1.780

Nome	#
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.	169
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.	152
Is CFTR 621+3 A > G a cystic fibrosis causing mutation?	146
Molecular analysis of two uncharacterized sequence variants of the VHL gene.	144
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.	143
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations	134
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.	133
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene.	118
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.	115
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis	114
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.	95
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency.	93
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.	92
Gene symbol:ASL. Disease: Argininosuccinate deficiency.	79
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency	74
Totale	1.801

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	185	0	0	0	0	0	0	30	41	31	47	20	16
2020/2021	291	5	16	4	14	39	32	2	21	45	11	63	39
2021/2022	323	2	44	68	12	10	61	14	7	33	8	24	40
2022/2023	195	32	29	2	37	27	26	0	16	17	2	5	2
2023/2024	117	9	17	17	11	8	28	3	2	1	6	7	8
2024/2025	143	0	17	13	33	68	7	5	0	0	0	0	0
Totale													1.801