statistiche ricercatore

Nome	#
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications	306
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes	248
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants	230
A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2	178
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism	98
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)	72
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot	69
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder	67
Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases	49
Kcnk18 biallelic variants associated with intellectual disability and neurodevelopmental disorders alter tresk channel activity	40
Next-Generation Sequencing Advances the Genetic Diagnosis of Cerebral Cavernous Malformation (CCM)	24
Totale	1.381

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	122	0	0	0	20	13	13	13	15	23	7	9	9
2020/2021	230	5	12	7	14	17	24	72	15	10	15	12	27
2021/2022	277	15	11	13	36	17	23	9	18	21	17	63	34
2022/2023	297	24	27	27	32	25	63	17	17	36	6	12	11
2023/2024	148	14	24	12	5	11	21	10	3	3	10	15	20
2024/2025	79	13	32	17	17	0	0	0	0	0	0	0	0
Totale													1.381

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