Elisa Pisaneschi - Concepedia

Author

Elisa Pisaneschi

Bambino Gesù Children's Hospital ORCID

Also Known As

Consuelo Modesto, E Pisaneschi, E. Pisaneschi, Elisa PISANESCHI, Elisa Pisaneschi, Pisaneschi, E., Soamarat Vilaiyuk

Publications

1.1K

Citations

H-Index

Concepts

All Affiliations

Bambino Gesù Children's Hospital Istituti di Ricovero e Cura a Carattere Scientifico Istituto Dermopatico dell'Immacolata Sapienza University of Rome Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

About

Elisa Pisaneschi is an author at Bambino Gesù Children's Hospital specializing in medicine, genetics, and clinical genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	258
2	Health Sciences	1	1	21
3	Biology	1	1	90
4	Cell Biology	1	1	114
5	Molecular Biology	1	1	22

Elisa Pisaneschi

Publications

808

Citations

H-Index

Page 1

	Year	Citations
Telomere shortening and telomere position effect in mild ring 17 syndrome Cecilia Surace, Francesco Berardinelli, Andrea Masotti, Epigenetics & Chromatin	2014	121
Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6 Andrea Masotti, Paolo Uva, Laura Davis‐Keppen, The American Journal of Human Genetics Keppen-lubinsky Syndrome IsChannelopathiesMolecular PhysiologySignal TransductionGenetic Disorder	2015	114
Trisomic rescue causing reduction to homozygosity for a novel <i>ABCA12</i> mutation in harlequin ichthyosis Daniele Castiglia, Marco Castori, Elisa Pisaneschi, Clinical Genetics GeneticsGenetic EpidemiologyPathologyMolecular GeneticsAbca12 Gene	2009	90
Congenital heart defects in molecularly proven Kabuki syndrome patients M. Cristina Digilio, Maria Gnazzo, Francesca Romana Lepri, American Journal of Medical Genetics Part A	2017	83
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing Francesca Romana Lepri, Rossana Scavelli, M. Cristina Digilio, BMC Medical Genetics	2014	68
X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Experimental Dermatology	2018	44
KBG syndrome: Common and uncommon clinical features based on 31 new patients Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici, American Journal of Medical Genetics Part A	2020	44
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis Andrea Diociaiuti, May El Hachem, Elisa Pisaneschi, Orphanet Journal of Rare Diseases	2016	30
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study Andrea Diociaiuti, Roberta Rotunno, Elisa Pisaneschi, Biomedicines	2022	28
A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing Claudia Covaciu, Fabiana Grosso, Elisa Pisaneschi, British Journal of Dermatology	2011	22

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