statistiche ricercatore

Continente	#
NA - Nord America	256
EU - Europa	132
AS - Asia	41
AF - Africa	1
Continente sconosciuto - Info sul continente non disponibili	1
Totale	431

Nome	#
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene	84
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication	43
The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF-opathy phenotype	42
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion	42
null	41
null	33
null	33
Clinical refinement of the SETD5-associated phenotype in a child displaying novel features and KBG syndrome-like appearance	30
null	25
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB	22
null	20
A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations	20
Axial skeletogenesis in human aneuploidies: a radiographic study of 145 second trimester fetuses	14
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype	13
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement	11
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients	9
Totale	482

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	33	0	0	0	2	5	4	6	7	5	1	3	0
2020/2021	85	0	2	0	42	1	2	10	1	4	11	9	3
2021/2022	100	5	1	2	1	16	4	0	5	24	15	9	18
2022/2023	108	20	13	6	7	17	14	3	6	8	10	4	0
2023/2024	60	1	12	1	9	8	14	1	1	0	2	4	7
2024/2025	25	8	2	15	0	0	0	0	0	0	0	0	0
Totale													482

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