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21 . Academic Journal
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism
저자
by
Martinelli, Simone
;
Cordeddu, Viviana
;
Galosi, Serena
;
Lanzo, Ambra
;
Palma, Eleonora
, et al.
소스
In
Parkinsonism and Related Disorders
March 2020 72:75-79
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27 . Academic Journal
DNA methylation signature classification of rare disorders using publicly available methylation data.
저자
by
Hildonen, Mathis
;
Ferilli, Marco
;
Hjortshøj, Tina Duelund
;
Dunø, Morten
;
Risom, Lotte
, et al.
소스
Clinical Genetics
. Jun2023, Vol. 103 Issue 6, p688-692. 5p.
Web of Science
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27 . Academic Journal
Natural history of MRAS‐related Noonan syndrome: Evidence of mild adult‐onset left ventricular hypertrophy and neuropsychiatric features.
저자
by
Priolo, Manuela
;
Mancini, Cecilia
;
Radio, Francesca Clementina
;
Chiriatti, Luigi
;
Ciolfi, Andrea
, et al.
소스
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Jun2023, Vol. 193 Issue 2, p160-166, 7p
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27 . Academic Journal
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
저자
by
Holt, Richard J.
;
Young, Rodrigo M.
;
Crespo, Berta
;
Ceroni, Fabiola
;
Curry, Cynthia J.
, et al.
소스
In
The American Journal of Human Genetics
5 September 2019 105(3):640-657
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27 . Academic Journal
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
저자
by
Ziccardi, Lucia
;
Niceta, Marcello
;
Stellacci, Emilia
;
Ciolfi, Andrea
;
Tatti, Massimo
, et al.
소스
International Journal of Molecular Sciences
. Dec2022, Vol. 23 Issue 23, p14656. 12p.
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27 . Academic Journal
Adult-onset KMT2B-related dystonia.
저자
by
Monfrini, Edoardo
;
Ciolfi, Andrea
;
Cavallieri, Francesco
;
Ferilli, Marco
;
Soliveri, Paola
, et al.
소스
Brain Communications; 2022, Vol. 4 Issue 6, p1-8, 8p
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27 . Academic Journal
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders.
저자
by
Levy, Michael A.
;
Relator, Raissa
;
McConkey, Haley
;
Pranckeviciene, Erinija
;
Kerkhof, Jennifer
, et al.
소스
Human Mutation; Nov2022, Vol. 43 Issue 11, p1609-1628, 20p
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27 . Academic Journal
Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants
저자
by
Priolo, Manuela
;
Zara, Erika
;
Radio, Francesca Clementina
;
Ciolfi, Andrea
;
Spadaro, Francesca
, et al.
소스
European Journal of Human Genetics
. 31(7):805-814
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27 . Periodical
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
저자
by
van Jaarsveld, Richard H.
;
Reilly, Jack
;
Cornips, Marie-Claire
;
Hadders, Michael A.
;
Agolini, Emanuele
, et al.
소스
Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p49-62, 14p
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27 . Academic Journal
SHP2's gain‐of‐function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
저자
by
Priolo, Manuela
;
Palermo, Valentina
;
Aiello, Francesca
;
Ciolfi, Andrea
;
Pannone, Luca
, et al.
소스
Clinical Genetics
. Jul2022, Vol. 102 Issue 1, p12-21. 10p.
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