statistiche ricercatore

Nome	#
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations	6
A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.	3
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene	3
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications	3
2.Mégarbané A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, Lefranc G, Sobacchi C. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.	1
Rescue of ATPa-3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in Utero	1
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.	1
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients.	1
RANKL Cytokine: From Pioneer of the Osteoimmunology Era to Cure for a Rare Disease.	1
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.	1
Totale	21

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2023/2024	15	0	0	0	0	0	0	0	0	3	3	9	0
2024/2025	6	1	2	3	0	0	0	0	0	0	0	0	0
Totale													21

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