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1 . Academic Journal
Liaisons between Survivin and Plk1 during Cell Division and Cell Death
저자
by
Colnaghi, Rita
;
Wheatley, Sally P.
.
소스
In
Journal of Biological Chemistry
16 July 2010 285(29):22592-22604
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4 . Academic Journal
DTYMK is essential for genome integrity and neuronal survival.
저자
by
Vanoevelen, Jo M.
;
Bierau, Jörgen
;
Grashorn, Janine C.
;
Lambrichs, Ellen
;
Kamsteeg, Erik-Jan
, et al.
소스
Acta Neuropathologica
. Feb2022, Vol. 143 Issue 2, p245-262. 18p.
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7 . Academic Journal
Mutagenic analysis of Thr-232 in rhodanese from Azotobacter vinelandii highlighted the differences of this prokaryotic enzyme from the known sulfurtransferases
저자
by
Pagani, Silvia
;
Forlani, Fabio
;
Carpen, Aristodemo
;
Bordo, Domenico
;
Colnaghi, Rita
.
소스
In
FEBS Letters
28 April 2000 472(2-3):307-311
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7 . Academic Journal
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
저자
by
Van Esch, Hilde
;
Colnaghi, Rita
;
Freson, Kathleen
;
Starokadomskyy, Petro
;
Zankl, Andreas
, et al.
소스
American Journal of Human Genetics
. May2019, Vol. 104 Issue 5, p957-967. 11p.
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7 . Academic Journal
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
저자
by
Abramowicz, Iga
;
Carpenter, Gillian
;
Alfieri, Mariaevelina
;
Colnaghi, Rita
;
Outwin, Emily
, et al.
소스
Human Molecular Genetics; Jan2017, Vol. 26 Issue 1, p19-32, 14p
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7 . Academic Journal
A Persulfurated Cysteine Promotes Active Site Reactivity in Azotobacter vinelandii Rhodanese
저자
by
Bordo, Domenico
;
Forlani, Fabio
;
Spallarossa, Andrea
;
Colnaghi, Rita
;
Carpen, Aristodemo
, et al.
소스
Biological Chemistry
. 382(8):1245-1252
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7 . Academic Journal
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance
저자
by
Payne, Felicity
;
Colnaghi, Rita
;
Rocha, Nuno
;
Seth, Asha
;
Harris, Julie
, et al.
소스
The Journal of Clinical Investigation
. Sep 02, 2014 124(9):4028-4038
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7 . Academic Journal
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: Two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
저자
by
Kerzendorfer, Claudia
;
Colnaghi, Rita
;
Abramowicz, Iga
;
Carpenter, Gillian
;
O’Driscoll, Mark
.
소스
DNA Repair
. Aug2013, Vol. 12 Issue 8, p637-644. 8p.
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7 . Academic Journal
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf–Hirschhorn syndrome
저자
by
Kerzendorfer, Claudia
;
Hannes, Femke
;
Colnaghi, Rita
;
Abramowicz, Iga
;
Carpenter, Gillian
, et al.
소스
Human Molecular Genetics
. May 15, 2012 21(10):2181-2193
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7 . Academic Journal
The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer
저자
by
Colnaghi, Rita
;
Carpenter, Gillian
;
Volker, Marcel
;
O’Driscoll, Mark
.
소스
Seminars in Cell & Developmental Biology
. Oct2011, Vol. 22 Issue 8, p875-885. 11p.
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