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Hobbiebrunken, Elke
20  results:
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1

Natural History and Developmental Trajectories of Individua..:

Thalwitzer, Kim M. ; Driedger, Jan H. ; Xian, Julie...
Neurology.  101 (2023)  9 - p. , 2023
Link: https://doi.org/10.1212/..
 
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2

Intragenic duplication of EHMT1 gene results in Kleefstra s..:

Schwaibold, Eva Maria Christina ; Smogavec, Mateja ; Hobbiebrunken, Elke...
Molecular Cytogenetics.  7 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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3

A 3p interstitial deletion in two monozygotic twin brothers..:

Maria Christina Schwaibold, Eva ; Zoll, Barbara ; Burfeind, Peter...
American Journal of Medical Genetics Part A.  161 (2013)  10 - p. 2634-2640 , 2013
Link: https://doi.org/10.1002/..
 
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4

Effectiveness of creatine monohydrate in mitochondrial ence..:

Komura, Kiyomi ; Hobbiebrunken, Elke ; Wilichowski, Ekkehard K.G.
Pediatric Neurology.  28 (2003)  1 - p. 53-58 , 2003
Link: https://doi.org/10.1016/..
 
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5

No mutation in the gene for Noonan syndrome, PTPN11, in 18 ..:

Tröger, Birte ; Kutsche, Kerstin ; Bolz, Hanno...
American Journal of Medical Genetics Part A.  121A (2003)  1 - p. 82-84 , 2003
Link: https://doi.org/10.1002/..
 
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6

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.archives-ouv..
 
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7

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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8

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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9

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
boreal:261635.  , 2021
Link: http://hdl.handle.net/20..
 
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10

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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11

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
boreal:261635.  , 2021
Link: http://hdl.handle.net/20..
 
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12

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7882473/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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13

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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14

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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15

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00401-020-02257-0.  , 2021
Link: https://hal.science/hal-..
 
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