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Brunetti‐Pierri, N
59  Ergebnisse:
Personensuche X
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1

Expanding the phenotype of DST‐related disorder: A case rep..:

Cappuccio, G. ; Pinelli, M. ; Torella, A....
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 268-268 , 2019
Link: https://doi.org/10.1002/..
 
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2

Characterization of de novo microdeletions involving 17q11...:

Brunetti‐Pierri, N ; Grange, DK ; Ou, Z...
Clinical Genetics.  72 (2007)  5 - p. 411-419 , 2007
Link: https://doi.org/10.1111/..
 
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3

Identification of three novel SEDL mutations, including mut..:

Shaw, MA ; Brunetti‐Pierri, N ; Kádasi, L...
Clinical Genetics.  64 (2003)  3 - p. 235-242 , 2003
Link: https://doi.org/10.1034/..
 
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4

DNA methylation epi-signature is associated with two molecu..:

Schenkel, L. C. ; Aref-Eshghi, E. ; Rooney, K....
Clinical Epigenetics.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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5

Genetic ablation of CHOP decreases hepatic accumulation of ..:

Attanasio, S. ; Castello, R. ; Pastore, N...
Journal of Hepatology.  68 (2018)  - p. S619 , 2018
Link: https://doi.org/10.1016/..
 
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6

Upregulation of miR-34c driven by JNK and FOXO3 in livers e..:

Piccolo, P. ; Barbato, A. ; Borel, F....
Journal of Hepatology.  68 (2018)  - p. S617 , 2018
Link: https://doi.org/10.1016/..
 
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7

Hepatic autophagy potentiates ureagenesis and its enhanceme..:

Soria, L. ; Allegri, G. ; Melck, D....
Journal of Hepatology.  68 (2018)  - p. S413 , 2018
Link: https://doi.org/10.1016/..
 
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8

Inhibition of pyruvate dehydrogenase complex and lactate de..:

Ferriero, R. ; Nusco, E. ; Cegli, R.D....
Journal of Hepatology.  68 (2018)  - p. S595-S596 , 2018
Link: https://doi.org/10.1016/..
 
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9

P1213 : Adeno-associated virus vector-mediated liver gene t..:

Bosma, P. ; Labrune, P. ; Brunetti-Pierri, N....
Journal of Hepatology.  62 (2015)  - p. S812 , 2015
Link: https://doi.org/10.1016/..
 
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10

Next-generation sequencing for disorders of low and high bo..:

Sule, G. ; Campeau, P. M. ; Zhang, V. W....
Osteoporosis International.  24 (2013)  8 - p. 2253-2259 , 2013
Link: https://doi.org/10.1007/..
 
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11

Helper-dependent adenoviral vectors for liver-directed gene..:

Brunetti-Pierri, N. ; Ng, P.
Human Molecular Genetics.  20 (2011)  R1 - p. R7-R13 , 2011
Link: https://doi.org/10.1093/..
 
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12

A novel mutation in the N-terminal region of the CYP17A1 ge..:

Nuzzo, V. ; Tauchmanova, L. ; Brunetti-Pierri, R....
Journal of Endocrinological Investigation.  32 (2009)  4 - p. 322-324 , 2009
Link: https://doi.org/10.1007/..
 
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13

19. Aortic root dilatation: a previously unrecognized clini..:

Brunetti-Pierri, N. ; Fouladi, N. ; Towbin, J....
Mitochondrion.  9 (2009)  1 - p. 65 , 2009
Link: https://doi.org/10.1016/..
 
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14

Expanding the phenotype of HNRNPU-related neurodevelopmenta..:

Taylor, J ; Spiller, M ; Ranguin, K...
https://eprints.whiterose.ac.uk/183978/1/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202022%20-%20Taylor%20-%20Expanding%20the%20phenotype%20of%20HNRNPU%E2%80%90related%20neurodevelopmental%20disorder.pdf.  , 2022
Link: https://eprints.whiteros..
 
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15

Liver-directed gene therapy for inherited metabolic disease:

Baruteau, J ; Brunetti-Pierri, N ; Gissen, P
https://discovery.ucl.ac.uk/id/eprint/10185756/1/Liver%20directed%20gene%20therapy%20for%20inherited%20metabolic%20diseases.pdf.  , 2024
Link: https://discovery.ucl.ac..
 
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