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51 .
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1
저자
by
Koczkowska, Magdalena
;
Callens, Tom
;
Chen, Yunjia
;
Gomes, Alicia
;
Hicks, Alesha D
, et al.
소스
Human Mutation
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HUMAN MUTATION
Open Access (OpenAIRE)
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57 .
Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)
저자
by
Ciaccio C.
;
Castello R.
;
Esposito S.
;
Pinelli M.
;
Nigro V.
, et al.
소스
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57 . Academic Journal
Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.
저자
by
Ciaccio, Claudia
;
Duga, Valentina
;
Pantaleoni, Chiara
;
Esposito, Silvia
;
Moroni, Isabella
, et al.
소스
European Journal of Medical Genetics
. Jan2021, Vol. 64 Issue 1, pN.PAG-N.PAG. 1p.
Full Text (Clinical Key)
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57 .
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization
저자
by
Tonduti, Davide
;
Panteghini, Celeste
;
Pichiecchio, Anna
;
Decio, Alice
;
Carecchio, Miryam
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)
Orphanet Journal of Rare Diseases
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57 . Academic Journal
Interleukin-30 Promotes Breast Cancer Growth and Progression
저자
by
Airoldi, Irma
;
Cocco, Claudia
;
Sorrentino, Carlo
;
Angelucci, Domenico
;
Di Meo, Serena
, et al.
소스
CANCER RESEARCH
; NOV 1 2016, 76 21, p6218-p6229, 12p.
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57 . Academic Journal
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort.
저자
by
Melloni, Giulia
;
Eoli, Marica
;
Cesaretti, Claudia
;
Bianchessi, Donatella
;
Ibba, Maria Cristina
, et al.
소스
Cancers
. Dec2019, Vol. 11 Issue 12, p1838-1838. 1p.
Scopus
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57 . Academic Journal
Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: ANRIL Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.
저자
by
Tritto, Viviana
;
Ferrari, Luca
;
Esposito, Silvia
;
Zuccotti, Paola
;
Bianchessi, Donatella
, et al.
소스
Genes
. Nov2019, Vol. 10 Issue 11, p892-892. 1p.
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57 . Academic Journal
Brain Tumors in NF1 Children: Influence on Neurocognitive and Behavioral Outcome.
저자
by
Taddei, Matilde
;
Erbetta, Alessandra
;
Esposito, Silvia
;
Saletti, Veronica
;
Bulgheroni, Sara
, et al.
소스
Cancers
. Nov2019, Vol. 11 Issue 11, p1772-1772. 1p.
Scopus
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57 . Academic Journal
SOX2 boosts major tumor progression genes in prostate cancer and is a functional biomarker of lymph node metastasis
저자
by
Russo, Marco Vincenzo
;
Esposito, Silvia
;
Tupone, Maria Grazia
;
Manzoli, Lamberto
;
Airoldi, Irma
, et al.
소스
ONCOTARGET
; MAR 15 2016, 7 11, p12372-p12385, 14p.
Scopus
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57 . Academic Journal
SNAI2/Slug gene is silenced in prostate cancer and regulates neuroendocrine differentiation, metastasis-suppressor and pluripotency gene expression
저자
by
Esposito, Silvia
;
Russo, Marco V.
;
Airoldi, Irma
;
Tupone, Maria Grazia
;
Sorrentino, Carlo
, et al.
소스
ONCOTARGET
; JUL 10 2015, 6 19, p17121-p17134, 14p.
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