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X
Alexandra Topa
49  Ergebnisse:
Personensuche X
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1

The value of genome-wide analysis in craniosynostosis:

Topa, Alexandra ; Rohlin, Anna ; Fehr, André...
Frontiers in Genetics.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Personalized Medicine Perspectives and Policies in European..:

, In: IFMBE Proceedings; 6th International Conference on Nanotechnologies and Biomedical Engineering,
Garabajiu, Maria ; Galea-Abdusa, Daniela ; Topa, Alexandra.. - p. 471-479 , 2023
Link: https://doi.org/10.1007/..
 
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3

Personalised Medicine Implementation in Low- and Middle-Inc..:

, In: IFMBE Proceedings; 6th International Conference on Nanotechnologies and Biomedical Engineering,
Gusila, Ilenuta ; Topa, Alexandra ; Zarbailov, Natalia.. - p. 411-420 , 2023
Link: https://doi.org/10.1007/..
 
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4

P331: WGS/WES as unique diagnostic tool for the genetic scr..:

Topa, Alexandra ; Rohlin, Anna ; Fehr, André...
Genetics in Medicine Open.  1 (2023)  1 - p. 100359 , 2023
Link: https://doi.org/10.1016/..
 
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5

Does training on the WHO package of essential noncommunicab..:

Kempers, Jari ; Rotaru, Cristina ; Topa, Alexandra...
Global Health Action.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1080/..
 
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6

The outcome of targeted NGS screening in patients with synd..:

Topa, Alexandra ; Rohlin, Anna ; Andersson, Mattias K....
European Journal of Medical Genetics.  65 (2022)  5 - p. 104476 , 2022
Link: https://doi.org/10.1016/..
 
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7

Children and young adults with anophthalmia and microphthal..:

Taha Najim, Rezhna ; Topa, Alexandra ; Jugård, Ylva...
Acta Ophthalmologica.  98 (2020)  8 - p. 848-858 , 2020
Link: https://doi.org/10.1111/..
 
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8

Visual function and quality of life in children and adolesc..:

Casslén, Beatrice ; Jugård, Ylva ; Taha Najim, Rezhna...
Acta Ophthalmologica.  98 (2020)  7 - p. 662-670 , 2020
Link: https://doi.org/10.1111/..
 
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9

Investment case for two-year post university speciality tra..:

Kempers, Jari ; Bohle, Leah F. ; Topa, Alexandra...
BMC Health Services Research.  20 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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10

Quality of life and visual perception in children and young..:

Gronlund, Marita Andersson ; Casslén, Beatrice ; Jugard, Ylva...
Journal of American Association for Pediatric Ophthalmology and Strabismus.  23 (2019)  4 - p. e15 , 2019
Link: https://doi.org/10.1016/..
 
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11

NGS targeted screening of 100 Scandinavian patients with co..:

Topa, Alexandra ; Rohlin, Anna ; Andersson, Mattias K....
American Journal of Medical Genetics Part A.  182 (2019)  2 - p. 348-356 , 2019
Link: https://doi.org/10.1002/..
 
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12

On the significance of craniosynostosis in a case of Kabuki..:

Topa, Alexandra ; Samuelsson, Lena ; Lovmar, Lovisa..
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2219-2225 , 2017
Link: https://doi.org/10.1002/..
 
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13

Grand paternal inheritance of X-linked myotubular myopathy ..:

Hedberg-Oldfors, Carola ; Visuttijai, Kittichate ; Topa, Alexandra..
Neuromuscular Disorders.  27 (2017)  9 - p. 843-847 , 2017
Link: https://doi.org/10.1016/..
 
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14

Novel promoters and coding first exons in DLG2 linked to de..:

Reggiani, Claudio ; Coppens, Sandra ; Sekhara, Tayeb...
Genome Medicine.  9 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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15

Novel myopathy in a newborn with Shwachman–Diamond syndrome..:

Topa, Alexandra ; Tulinius, Mar ; Oldfors, Anders.
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1155-1164 , 2016
Link: https://doi.org/10.1002/..
 
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