statistiche ricercatore

Continente	#
NA - Nord America	260
AS - Asia	100
EU - Europa	77
Continente sconosciuto - Info sul continente non disponibili	45
SA - Sud America	6
AF - Africa	5
Totale	493

Nome	#
Evidence of inbreeding depression on human height	52
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme	49
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection	44
Detection of epidermal thickening in GJB2 carriers with epidermal US1	40
Could the MED13 mutations manifest as a Kabuki-like syndrome?	39
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene	39
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss	38
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis	31
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study	31
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge	30
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?	29
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders	26
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability	24
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability	21
Totale	493

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2025/2026	303	0	0	0	0	39	55	50	23	36	33	43	24
2026/2027	190	10	33	44	82	21	0	0	0	0	0	0	0
Totale													493