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1 . Academic Journal
An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review
저자
by
Alessandro Orsini
;
Andrea Santangelo
;
Alessandra Carmignani
;
Anna Camporeale
;
Francesco Massart
, et al.
소스
Genes, Vol 15, Iss 4, p 436 (2024)
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7 . Academic Journal
Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants
저자
by
Gabriele Bonetti
;
William Cozza
;
Andrea Bernini
;
Jurgen Kaftalli
;
Chiara Mareso
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16881 (2023)
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7 . Academic Journal
Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
저자
by
Paolo Aretini
;
Chiara Maria Mazzanti
;
Marco La Ferla
;
Sara Franceschi
;
Francesca Lessi
, et al.
소스
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome
저자
by
Simone Gana
;
Angelo Valetto
;
Benedetta Toschi
;
Irene Sardelli
;
Susanna Cappelli
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 . Academic Journal
A 17q duplication prenatally detected
저자
by
Rossella Bruno
;
Angelo Valetto
;
Veronica Bertini
;
Cinzia Cosini
;
Benedetta Toschi
, et al.
소스
Taiwanese Journal of Obstetrics & Gynecology, Vol 54, Iss 3, Pp 326-329 (2015)
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7 . Academic Journal
Clinical Phenotype of DiGeorge Syndrome with Negative Genetic Tests: A Case of DiGeorge-Like Syndrome?
저자
by
Gianluigi Laccetta
;
Benedetta Toschi
;
Antonella Fogli
;
Veronica Bertini
;
Angelo Valetto
, et al.
소스
Case Reports in Pediatrics, Vol 2015 (2015)
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7 .
Calcification of Joints and Arteries (CALJA) Is a Rare Cause of Arthritis and Lower Limb Ischemia: Case Report and Literature Review
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by
Michele Maffi
;
Giammarco De Mattia
;
Maria Rosa Mazzoni
;
Angela Michelucci
;
Benedetta Toschi
, et al.
소스
SN Comprehensive Clinical Medicine
. 5
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7 .
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature
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by
Veronica Bertini
;
Francesca Cambi
;
Alessandro Giacomina
;
Benedetta Toschi
;
Gian Luca Gatti
, et al.
소스
Molecular Syndromology
. 10:147-153
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7 .
Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets
저자
by
Benedetta Toschi
;
Mario Manca
;
Diego Peroni
;
Alessandro Isola
;
Angela Michelucci
, et al.
소스
Journal of bone and mineral metabolism
. 39(2)
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7 .
3p26.3 terminal deletions: a challenge for prenatal genetic counseling
저자
by
Veronica Bertini
;
Angelo Valetto
;
Alessia Azzarà
;
Benedetta Toschi
;
Simone Gana
.
소스
Prenatal Diagnosis
. 37:197-200
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