statistiche ricercatore

Nome	#
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care	181
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly	123
Mowat-Wilson syndrome: growth charts	104
Risk of congenital anomalies around a municipal solid waste incinerator	77
Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene	68
Correspondence on “Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG”	34
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation	16
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature	5
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature	4
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report	2
Totale	614

	Totale	Lug	Ago	Sett	Ott	Nov	Dic	Gen	Feb	Mar	Apr	Mag	Giu
2019/2020	69	0	0	1	3	5	14	12	9	9	3	5	8
2020/2021	143	5	12	4	27	21	10	14	17	6	12	7	8
2021/2022	109	4	7	10	2	0	8	15	7	5	5	31	15
2022/2023	114	14	15	7	9	16	21	0	10	13	2	5	2
2023/2024	114	9	3	7	8	16	12	5	16	5	3	7	23
2024/2025	15	9	3	3	0	0	0	0	0	0	0	0	0
Totale													614