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1 . Academic Journal
Novel Sources of Biodiversity and Biomolecules from Bacteria Isolated from a High Middle Ages Soil Sample in Palermo (Sicily, Italy)
저자
by
Alberto Vassallo
;
Alessandra Modi
;
Andrea Quagliariello
;
Giovanni Bacci
;
Teresa Faddetta
, et al.
소스
Microbiology Spectrum, Vol 11, Iss 3 (2023)
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7 . Academic Journal
Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia
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by
Aldesia Provenzano
;
Massimiliano Chetta
;
Giuseppina De Filpo
;
Giulia Cantini
;
Andrea La Barbera
, et al.
소스
Medicina, Vol 58, Iss 8, p 1113 (2022)
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7 . Academic Journal
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females
저자
by
Aldesia Provenzano
;
Andrea La Barbera
;
Francesco Lai
;
Andrea Perra
;
Antonio Farina
, et al.
소스
Journal of Clinical Medicine, Vol 11, Iss 14, p 4182 (2022)
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7 . Academic Journal
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
저자
by
Evelise Brizola
;
Maria Gnoli
;
Morena Tremosini
;
Paolo Nucci
;
Sara Bargiacchi
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
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7 . Academic Journal
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
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by
Valentina Bruni
;
Cristina Barbara Spoleti
;
Andrea La Barbera
;
Vincenzo Dattilo
;
Emma Colao
, et al.
소스
Genes, Vol 12, Iss 9, p 1395 (2021)
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7 . Academic Journal
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature
저자
by
Silvia Ricci
;
Lorenzo Lodi
;
Daniele Serranti
;
Marco Moroni
;
Gilda Belli
, et al.
소스
Frontiers in Immunology, Vol 10 (2019)
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7 .
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes
저자
by
Flavio Giordano
;
Viviana Palazzo
;
Silvia Guarducci
;
Livia Garavelli
;
Mirko Scagnet
, et al.
소스
Human Genetics
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7 .
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
저자
by
Emanuele Bellacchio
;
Carmela Votino
;
Vincenzo Dattilo
;
Cristina Barbara Spoleti
;
Emma Colao
, et al.
소스
Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1395, p 1395 (2021)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation
저자
by
Paolo Nucci
;
Morena Tremosini
;
Sara Bargiacchi
;
Evelise Brizola
;
Luca Sangiorgi
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
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Scopus
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7 .
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature
저자
by
Gilda Belli
;
Lorenzo Lodi
;
Andrea La Barbera
;
Marco Moroni
;
Giuseppe Indolfi
, et al.
소스
Frontiers in Immunology, Vol 10 (2019)
Frontiers in Immunology
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Scopus
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