statistiche ricercatore

Nome	#
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy, file aa0a04bd-0f3a-48e9-b138-40d7fe9b650b	27
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants, file 71405303-d491-49f5-9196-1dd81d787513	6
Identification of a robust DNA methylation signature for Fanconi anemia, file c5502938-7e85-48d1-a0f1-bd398f50c36c	5
Prenatal CFAP53-related laterality defect: case report and review of the literature, file d529a787-c491-44b3-8c68-9edb4a2d526e	4
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy, file 1581694c-670c-4b7f-987b-74cb1dc636ad	3
PATZ1-rearranged tumors of the central nervous system: characterization of a pediatric series of seven cases, file 76a28e82-6737-4a02-91f8-9b8d169ea6c3	3
Defining the phenotype of FHF1 developmental and epileptic encephalopathy, file 73b00a28-25b3-483a-8ce7-1b04a52e3810	2
MED13 mutation. A novel cause of developmental and epileptic encephalopathy with infantile spasms, file dec15e3b-dfd2-4769-833d-c93e67f8e90c	1
Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome, file e3835321-35d2-15e8-e053-a505fe0a3de9	1
Congenital heart defects in the recurrent 2q13 deletion syndrome, file e383532e-1fca-15e8-e053-a505fe0a3de9	1
Totale	53

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2018/2019	1	0	0	0	0	0	0	0	0	0	0	0	1
2021/2022	1	0	0	0	0	0	0	0	0	0	1	0	0
2022/2023	5	0	0	0	0	0	0	0	0	0	0	0	5
2023/2024	46	5	1	2	4	3	7	0	10	0	6	8	0
Totale													53

Catalogo dei prodotti della ricerca