statistiche ricercatore

Nome	#
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme	8
Detection of epidermal thickening in GJB2 carriers with epidermal US1	7
Could the MED13 mutations manifest as a Kabuki-like syndrome?	6
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene	6
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis	5
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?	5
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability	4
Evidence of inbreeding depression on human height	1
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability	1
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study	1
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge	1
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss	1
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders	1
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection	1
Totale	48

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2025/2026	48	0	0	0	0	39	9	0	0	0	0	0	0
Totale													48