Distribuzione geografica
Continente #
EU - Europa 1244
Totale 1244
Nazione #
IT - Italia 1244
Totale 1244
Città #
Genova 981
Rapallo 238
Genoa 25
Totale 1244
Nome #
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 116
Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature 105
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 103
Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: A single-center experience 102
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development 96
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome 93
Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia 89
A novel pathogenic MYH3 mutation in a child with Sheldon–Hall syndrome and vertebral fusions 86
Genetic Screening of Pediatric Cavernous Malformations 79
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 73
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 45
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 43
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 35
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 35
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 28
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 28
L1CAM variants cause two distinct imaging phenotypes on fetal MRI 21
Genotype-phenotype correlations in neurofibromatosis type 1: A single-center cohort study 18
Diagnostic Approach to Macrocephaly in Children 15
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 13
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 12
A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management 11
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review 11
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? 7
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 6
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review 6
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 6
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 5
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency 5
Clinical, Endocrine and Neuroimaging Findings in Girls with Central Precocious Puberty 4
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts 2
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 2
Totale 1300
Categoria #
all - tutte 3023
article - articoli 3023
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 6046

Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201848 0000 00 77 810115
2018/201961 0500 96 50 061812
2019/2020357 1613527 2834 6835 43482515
2020/2021264 14172473 58 1625 10321723
2021/2022298 15171722 2325 647 34471035
2022/2023266 2442942 7460 150 0000
Totale 1300