statistiche ricercatore

Continente	#
NA - Nord America	1.390
EU - Europa	133
AS - Asia	95
Continente sconosciuto - Info sul continente non disponibili	1
Totale	1.619

Nome	#
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.	159
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.	140
Molecular analysis of two uncharacterized sequence variants of the VHL gene.	133
Is CFTR 621+3 A > G a cystic fibrosis causing mutation?	133
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.	132
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations	121
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.	117
Angelman Syndrome due to a novel splicing mutation of the UBE3A gene.	109
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.	106
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis	105
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.	87
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.	85
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency.	84
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency	65
Gene symbol:ASL. Disease: Argininosuccinate deficiency.	64
Totale	1.640

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2018/2019	114	0	0	0	0	0	0	0	0	0	24	49	41
2019/2020	317	42	8	7	22	31	22	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	99	9	17	17	11	8	28	3	2	1	3	0	0
Totale													1.640