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Schimpf-Linzenbold, Simone
32  results:
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1

DominantACO2mutations are a frequent cause of isolated opti..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
Brain Communications.  3 (2021)  2 - p. , 2021
Link: https://doi.org/10.1093/..
 
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2

Mutation spectrum of the OPA1 gene in a large cohort of pat..:

Weisschuh, Nicole ; Schimpf-Linzenbold, Simone ; Mazzola, Pascale...
PLOS ONE.  16 (2021)  7 - p. e0253987 , 2021
Link: https://doi.org/10.1371/..
 
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3

Haploinsufficiency due to a novel ACO2 deletion causes mito..:

Neumann, Marie Anne-Catherine ; Grossmann, Dajana ; Schimpf-Linzenbold, Simone...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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4

Novel likely pathogenic variants in TMEM126A identified in ..:

Kloth, Katja ; Synofzik, Matthis ; Kernstock, Christoph...
BMC Medical Genetics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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5

Allelic Expression Imbalance in the Human Retinal Transcrip..:

Llavona, Pablo ; Pinelli, Michele ; Mutarelli, Margherita...
Genes.  8 (2017)  10 - p. 283 , 2017
Link: https://doi.org/10.3390/..
 
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6

Disease expression caused by different variants in the BEST..:

Nowomiejska, Katarzyna ; Nasser, Fadi ; Stingl, Katarina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9328113/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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7

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
info:eu-repo/semantics/altIdentifier/doi/10.1093/braincomms/fcab063.  , 2021
Link: https://hal.science/hal-..
 
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8

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
info:eu-repo/semantics/altIdentifier/doi/10.1093/braincomms/fcab063.  , 2021
Link: https://hal.science/hal-..
 
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9

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
https://www.repository.cam.ac.uk/handle/1810/324713.  , 2021
Link: https://www.repository.c..
 
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10

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
info:eu-repo/semantics/altIdentifier/pmid/34056600.  , 2021
Link: http://hdl.handle.net/11..
 
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11

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
info:eu-repo/semantics/altIdentifier/doi/10.1093/braincomms/fcab063.  , 2021
Link: https://hal.science/hal-..
 
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12

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, Majida ; Gueguen, Naïg ; Ferré, Marc...
info:eu-repo/semantics/altIdentifier/doi/10.1093/braincomms/fcab063.  , 2021
Link: https://hal.science/hal-..
 
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13

Haploinsufficiency due to a novel ACO2 deletion causes mito..:

Neumann, Marie Anne-Catherine ; Grossmann, Dajana ; Schimpf-Linzenbold, Simone...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541502/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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14

Haploinsufficiency due to a novel ACO2 deletion causes mito..:

Neumann, Marie Anne-Catherine(*) ; Grossmann, Dajana(*) ; Schimpf-Linzenbold, Simone...
http://orbilu.uni.lu/handle/10993/44703.  , 2020
Link: http://orbilu.uni.lu/han..
 
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15

Allelic Expression Imbalance in the Human Retinal Transcrip..:

Llavona, Pablo ; Pinelli, Michele ; Mutarelli, Margherita...
10.3390/genes8100283.  , 2018
Link: http://hdl.handle.net/10..
 
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