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X
Spasic‐Boskovic, Olivera
55  Ergebnisse:
Personensuche X
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1

Biallelic CACNA1A variants: Review of literature and report..:

Wong‐Spracklen, Vivien M. Y. ; Kolesnik, Anna ; Eck, Josefine...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3306-3311 , 2022
Link: https://doi.org/10.1002/..
 
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2

Targeted Next‐Generation Sequencing Analysis of 1,000 Indiv..:

Grozeva, Detelina ; Carss, Keren ; Spasic‐Boskovic, Olivera...
Human Mutation.  36 (2015)  12 - p. 1197-1204 , 2015
Link: https://doi.org/10.1002/..
 
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3

The RNA binding protein Zfp36l1 is required for normal vasc..:

Bell, Sarah E. ; Sanchez, Maria Jose ; Spasic‐Boskovic, Olivera...
Developmental Dynamics.  235 (2006)  11 - p. 3144-3155 , 2006
Link: https://doi.org/10.1002/..
 
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4

Identification and functional modelling of plausibly causat..:

Bengani, Hemant ; Grozeva, Detelina ; Moyon, Lambert...
PLOS ONE.  16 (2021)  8 - p. e0256181 , 2021
Link: https://doi.org/10.1371/..
 
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5

Clinicopathological co-occurrence of Fahr's disease and dem..:

Jensen, Melanie P. ; Spasic-Boskovic, Olivera ; Rowe, James B...
Clinical Neuropathology.  39 (2020)  9 - p. 227-231 , 2020
Link: https://doi.org/10.5414/..
 
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6

Rare Genetic Variation in 135 Families With Family History ..:

Sanchis-Juan, Alba ; Bitsara, Christina ; Low, Kay Yi...
Frontiers in Genetics.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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7

Mosaicism for a pathogenic MFN2 mutation causes minimal cli..:

Schon, Katherine ; Spasic-Boskovic, Olivera ; Brugger, Kim...
neurogenetics.  18 (2017)  1 - p. 49-55 , 2017
Link: https://doi.org/10.1007/..
 
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8

Discovery of a novel dominant mutation in the REN gene afte..:

Clissold, Rhian L. ; Clarke, Helen C. ; Spasic-Boskovic, Olivera...
BMC Nephrology.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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9

De Novo Loss-of-Function Mutations in SETD5, Encoding a Met..:

Grozeva, Detelina ; Carss, Keren ; Spasic-Boskovic, Olivera...
The American Journal of Human Genetics.  94 (2014)  4 - p. 618-624 , 2014
Link: https://doi.org/10.1016/..
 
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10

Transfer of folic acid inside the first-trimester gestation..:

Jauniaux, Eric ; Johns, Jemma ; Gulbis, Beatrice..
American Journal of Obstetrics and Gynecology.  197 (2007)  1 - p. 58.e1-58.e6 , 2007
Link: https://doi.org/10.1016/..
 
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11

The Huntington's disease protein interacts with p53 and CRE..:

Steffan, Joan S. ; Kazantsev, Aleksey ; Spasic-Boskovic, Olivera...
Proceedings of the National Academy of Sciences.  97 (2000)  12 - p. 6763-6768 , 2000
Link: https://doi.org/10.1073/..
 
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12

The Huntington's Disease Protein Interacts with p53 and CRE..:

Steffan, Joan S. ; Kazantsev, Aleksey ; Spasic-Boskovic, Olivera...
Proceedings of the National Academy of Sciences of the United States of America.  97 (2000)  12 - p. 6763-6768 , 2000
Link: https://www.jstor.org/st..
 
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13

Biallelic CACNA1A variants: Review of literature and report..:

Wong‐Spracklen, Vivien M. Y ; Kolesnik, Anna ; Eck, Josefine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826308/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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14

Identification and functional modelling of plausibly causat..:

Bengani, Hemant ; Grozeva, Detelina ; Moyon, Lambert...
info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0256181.  , 2021
Link: https://hal.archives-ouv..
 
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15

Identification and functional modelling of plausibly causat..:

Hemant Bengani ; Detelina Grozeva ; Lambert Moyon...
https://doi.org/10.1371/journal.pone.0256181.  , 2021
Link: https://doi.org/10.1371/..
 
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