Elisa Pisaneschi - Istituto di Ricovero e Cura a Carattere Scientifico, Bambino Gesù Children’s Hospital

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论文共 77 篇作者统计合作学者相似作者

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Prenatal Identification of a Pathogenic Maternal FGFR1 Variant in Two Consecutive Pregnancies with Fetal Forebrain Malformations

Ludovico Graziani,Sara Nuovo,Elisa Pisaneschi,Miriam Lucia Carriero,Leila Baghernajad Salehi,Anna Maria Nardone,Lucia Manganaro,Antonio Novelli,Maria Rosaria D'Apice,Ilenia Mappa,Giuseppe Novelli

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE（2024）

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Structural Rearrangements As a Recurrent Pathogenic Mechanism for SETBP1 Haploinsufficiency

V. Alesi,S. Genovese,M. C. Roberti, E. Sallicandro, S. Di Tommaso,S. Loddo,V. Orlando, D. Pompili,C. Calacci, V. Mei,E. Pisaneschi, M. V. Faggiano, A. Morgia,C. Mammì,G. Astrea,R. Battini,M. Priolo,M. L. Dentici, R. Milone,A. Novelli

Human genomics（2024）

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Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency

Adalgisa Cordisco,Virginia Lozza,Chiara Di Marco, Antonella Cecconi,Elisa Pisaneschi, Samantha Federica Berti, Laura Adamo, Ilaria Lori,Gilda Belli, Beatrice Gambi

Pediatric dermatologyno. 3 (2024): 512-514

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Assessment of Gene–disease Associations and Recommendations for Genetic Testing for Somatic Variants in Vascular Anomalies by VASCERN-VASCA

Nicole Revencu,Astrid Eijkelenboom,Claire Bracquemart, Pia Alhopuro,Judith Armstrong,Eulalia Baselga,Claudia Cesario,Maria Lisa Dentici,Melanie Eyries,Sofia Frisk,Helena Gásdal Karstensen,Nagore Gene‑Olaciregui, Sirpa Kivirikko,Cinzia Lavarino,Inger‑Lise Mero, Rodolphe Michiels,Elisa Pisaneschi,Bitten Schönewolf‑Greulich,Ilse Wieland,Martin Zenker,Miikka Vikkula

ORPHANET JOURNAL OF RARE DISEASESno. 1 (2024)

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First report of Coffin-Siris Syndrome with SMARCB1 variant, normal intelligence and mild selective neuropsychological deficits: A case report and literature review

Massimo Apicella,Andrea Battisti,Elisa Pisaneschi,Deny Menghini,Maria Cristina Digilio,Stefano Vicari

The Clinical neuropsychologistpp.1-23, (2024)

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Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients

Andrea Diociaiuti,Marialuisa Corbeddu,Sabrina Rossi,Elisa Pisaneschi,Claudia Cesario,Angelo Giuseppe Condorelli,Tonia Samela,Simona Giancristoforo,Adriano Angioni,Giovanna Zambruno,Antonio Novelli,Rita Alaggio,Damiano Abeni,May El Hachem

DERMATOLOGY（2024）

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Tufted Hair at Birth: A Previously Undescribed Peculiar Sign of Trichothiodystrophy

A Diociaiuti,C Carnevale,A Bassi,S Rossi,E Pisaneschi,G Zambruno,M El Hachem

Journal of the European Academy of Dermatology and Venereology JEADVno. 6 (2023): e462-e464

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Genetic Insight in Vein of Galen Aneurysmal Malformation

S. Ronci,F. Campi, D. Longo,P. Giliberti,E. Pisaneschi,S. Lozzi, S. Caoci,F. Pugnaloni,M. Calì, A. Di Pede,I. Capolupo,R. Vicario,M.C. Digilio,A. Novelli,A. Dotta,C. Gandolfo,P. Bagolan

Italian Journal of Gynaecology and Obstetricsno. Supplement 01 (2023)

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A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature

Alessandra Gelmetti,Francesca Besagni,Livia Garavelli,Elisa Pisaneschi,Cosimo Misciali,Lara Valeri,Francesca Peluso,Marco Adriano Chessa,Miriam Leuzzi,Annalucia Virdi,Bianca Maria Piraccini,Iria Neri

Journal of rare diseases and orphan drugs (2023): 10-18

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