statistiche ricercatore

Nome	#
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme	26
Evidence of inbreeding depression on human height	24
Could the MED13 mutations manifest as a Kabuki-like syndrome?	23
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis	19
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene	18
Detection of epidermal thickening in GJB2 carriers with epidermal US1	16
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss	16
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability	16
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?	15
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection	13
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study	12
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability	11
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge	11
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders	10
Totale	230

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2025/2026	230	0	0	0	0	39	55	50	23	36	27	0	0
Totale													230