statistiche ricercatore

Nome	#
Evidence of inbreeding depression on human height	32
Could the MED13 mutations manifest as a Kabuki-like syndrome?	30
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme	30
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene	24
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis	22
Detection of epidermal thickening in GJB2 carriers with epidermal US1	22
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss	22
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?	20
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability	19
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge	18
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study	17
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection	16
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability	15
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders	14
Totale	301

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2025/2026	301	0	0	0	0	39	55	50	23	36	33	43	22
Totale													301