Get started
Author

Martina Busè

Observed names: Buse Martina, M. Busè, Martina Buse
ORCID: 0000-0003-0825-9159
Observed ORCID: 0000-0003-0825-9159
OpenAlex ID: A5061375266
Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series
2017 · Martina Busè, Helenia C. Cuttaia, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 41
PDF
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2023 · Maria Pia Leone, Silvia Morlino, et al. · Human Genetics · 13
IgA nephropathy in a child: Crohn’s disease-associated or adalimumab induced?
2021 · Francesco Graziano, Martina Busè, et al. · Current Medical Research and Opinion · 13
Inhaled nitric oxide as a rescue therapy in a preterm neonate with severe pulmonary hypertension: a case report
2018 · Martina Busè, Francesco Graziano, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 10
PDF
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
2022 · Francesca Mercadante, Ettore Piro, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 6
PDF
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
2023 · Emanuela Salzano, Marcello Niceta, et al. · Frontiers in Neurology · 5
12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature
2020 · Francesca Mercadante, Martina Busè, et al. · The Italian Journal of Pediatrics/Italian journal of pediatrics · 5
PDF
Meconial peritonitis in a rare association of partial ileal apple-peel atresia with small abdominal wall defect
2014 · V. Insinga, M. Pensabene, et al. · La Pediatria Medica e Chirurgica · 5
PDF
TEMPORARY REMOVAL: Molecular and clinical Insights into KMT2E-Related O’Donnell-Luria-Rodan syndrome in a novel patient cohort
2024 · Davide Vecchio, Filippo M. Panfili, et al. · European Journal of Medical Genetics · 4
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?
2018 · Gloria Pelizzo, Aurora Puglisi, et al. · Case Reports in Pediatrics · 4
PDF
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature
2022 · Maria Paola Recalcati, Ilaria Catusi, et al. · Genes · 3
PDF
Copy Number Variations in the Etiology of Epilepsy
2013 · Giovanni Corsello, Ettore Piro, et al. · 2
Cerebral Venous Thrombosis in a Child With Very-Early-Onset IBD
2021 · Francesco Graziano, Martina Busè, et al. · Inflammatory Bowel Diseases · 1
Copy Number Variations in the Etiology of Autism Spectrum Disorders
2013 · Ettore Piro, Martina Busè, et al. · Nova Science Publishers (Nova Science Publishers, Inc.) · 1
Development and Validation of a Practical Tool for Assessing Acute Pain in the Pediatric Population With Down Syndrome (ANDREAS): A Study Protocol
2025 · Roberto Latina, Rosaria Gambino, et al. · Cureus
PDF
A rare case of sporadic colorectal adenocarcinoma in a child
2021 · Francesco Graziano, Martina Busè, et al. · Digestive and Liver Disease
HMGA2遺伝子を含む12q14.3微小欠失は銀-ラッセル症候群様表現型を引き起こす:症例報告と文献レビュー【JST・京大機械翻訳】
2020 · Mercadante Francesca, Buse Martina, et al.
A Rare Complex Structural Chromosomal Anomaly in Mosaic Due to the Instability of a Derivative Chromosome 18 in a Female Infertile Patient
2016 · Salvatrice A Lauricella, Martina Buse, et al. · Journal of Down Syndrome & Chromosome Abnormalities
Peritonite meconiale in una rara associazionedi atresia ileale apple-peel con difettodi parete addominale
2014 · Insinga, Marco Pensabene, et al. · Pediatria Medica e Chirurgica
Works count: 19
Citation count: 113
H-index: 5
I10-index: 4
Year
Topic
Type