IRIS
BALDASSARI, SIMONA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 991
Totale 991
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 991
Totale 991
Salva come PNG Salva come JPEG
Città #
Genova 439
Genoa 214
Vado Ligure 179
Rapallo 155
Bordighera 4
Totale 991
Salva come PNG Salva come JPEG
Nome #
Hypomyelination and congenital cataract: Identification of novel mutations in two unrelated families. 132
Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein. 127
Novel FAM126A mutations in hypomyelination and congenital cataract disease. 112
Progress of Induced Pluripotent Stem Cell Technologies to Understand Genetic Epilepsy 102
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons 91
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development 64
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 48
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 45
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 42
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 39
Vesicular glutamate release from feeder-free hiPSC-derived neurons 37
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 29
Expanding the phenotype associated with biallelic SLC20A2 variants 28
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation 24
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 22
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues 22
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation 16
Generation of induced pluripotent stem cell lines from a patient with Sotos syndrome carrying 5q35 microdeletion 12
Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report 8
De novo variants in DENND5B cause a neurodevelopmental disorder 8
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 5
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations 4
Totale 1.017
Salva come PNG Salva come JPEG
Categoria #
all - tutte 4.733
article - articoli 4.733
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.466
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020113 0 0 0 0 0 0 26 15 21 24 20 7
2020/202181 7 7 6 11 1 3 4 9 4 16 3 10
2021/2022103 5 5 16 12 4 4 9 22 2 8 7 9
2022/2023188 11 18 2 20 22 26 0 19 31 1 29 9
2023/2024166 4 14 6 24 17 33 11 9 10 5 14 19
2024/2025213 27 28 11 42 38 61 6 0 0 0 0 0
Totale 1.017