IRIS
MANGANO, GIUSEPPE DONATO
 Distribuzione geografica
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Continente #
AS - Asia 65
EU - Europa 12
NA - Nord America 11
Totale 88
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Nazione #
HK - Hong Kong 58
US - Stati Uniti d'America 11
SG - Singapore 7
IE - Irlanda 6
IT - Italia 5
NL - Olanda 1
Totale 88
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Città #
Hong Kong 58
Dublin 6
Singapore 4
Rome 3
Seattle 3
Totale 74
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Nome #
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 15
A brief guide to the anatomical dissection of the stomach 9
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties 8
Familial hemiplegic migraine in pediatric patients: A genetic, clinical, and follow‐up study 6
Cancer‐Related Cachexia: The Vicious Circle between Inflammatory Cytokines, Skeletal Muscle, Lipid Metabolism and the Possible Role of Physical Training 6
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit 6
Heat Shock Proteins Alterations in Rheumatoid Arthritis 5
Two distinct phenotypes, hemiplegic migraine and episodic Ataxia type 2, caused by a novel common CACNA1A variant 5
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 5
Migraine in children under 6 years of age: A long-term follow-up study 5
De novo GRIN2A variants associated with epilepsy and autism and literature review 4
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review 4
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications 4
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster 4
Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants 4
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes 4
Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities 4
Broad neurodevelopmental features and cortical anomalies associated with a novel de novo KMT2A variant in Wiedemann−Steiner syndrome 4
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 4
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review 4
NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron 4
Benign familial infantile epilepsy associated with KCNQ3 mutation: a rare occurrence or an underestimated event? 3
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview 3
Totale 120
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Categoria #
all - tutte 529
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 529
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2024/2025120 0 0 0 0 0 75 45 0 0 0 0 0
Totale 120