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Kleinle, Stephanie
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1

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy b..:

Kleinle, Stephanie ; Scholz, Veronika ; Benet-Pagés, Anna...
Journal of Neuromuscular Diseases.  10 (2023)  5 - p. 835-846 , 2023
Link: https://doi.org/10.3233/..
 
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2

Quality assurance within the context of genome diagnostics ..:

Florian, Kraft ; Benet-Pagès, Anna ; Berner, Daniel...
Medizinische Genetik.  35 (2023)  2 - p. 91-104 , 2023
Link: https://doi.org/10.1515/..
 
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3

Präkonzeptionsscreening:

Courage, Carolina ; Koehler, Udo ; Kleinle, Stephanie...
Gynäkologische Endokrinologie.  20 (2022)  2 - p. 116-124 , 2022
Link: https://doi.org/10.1007/..
 
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4

Parallel in-depth analysis of repeat expansions in ataxia p..:

Erdmann, Hannes ; Schöberl, Florian ; Giurgiu, Mădălina...
Brain.  146 (2022)  5 - p. 1831-1843 , 2022
Link: https://doi.org/10.1093/..
 
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5

HPO-driven virtual gene panel: a new efficient approach in ..:

Schön, Ulrike ; Holzer, Anna ; Laner, Andreas...
BMC Medical Genomics.  14 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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6

Sensory neuropathy due to RFC1 in a patient with ALS: more ..:

Schoeberl, Florian ; Abicht, Angela ; Kuepper, Clemens...
Journal of Neurology.  269 (2021)  5 - p. 2774-2777 , 2021
Link: https://doi.org/10.1007/..
 
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7

Alpers- and MNGIE-like disease with disturbed CSF folate tr..:

Korinthenberg, Rudolf ; Kirschner, Janbernd ; Eckenweiler, Matthias...
Journal of the International Child Neurology Association.  1 (2021)  1 - p. , 2021
Link: https://doi.org/10.17724..
 
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8

Cancer incidence and spectrum among children with genetical..:

Cöktü, Sümeyye ; Spix, Claudia ; Kaiser, Melanie...
British Journal of Cancer.  123 (2020)  4 - p. 619-623 , 2020
Link: https://doi.org/10.1038/..
 
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9

Revisiting mitochondrial diagnostic criteria in the new era..:

Witters, Peter ; Saada, Ann ; Honzik, Tomas...
Genetics in Medicine.  20 (2018)  4 - p. 444-451 , 2018
Link: https://doi.org/10.1038/..
 
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10

A novel mechanism causing imbalance of mitochondrial fusion..:

Bartsakoulia, Marina ; Pyle, Angela ; Troncoso-Chandía, Diego...
Human Molecular Genetics.  27 (2018)  7 - p. 1186-1195 , 2018
Link: https://doi.org/10.1093/..
 
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11

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): C..:

Abicht, Angela ; Scharf, Florentine ; Kleinle, Stephanie...
Molecular Genetics & Genomic Medicine.  6 (2018)  6 - p. 1188-1198 , 2018
Link: https://doi.org/10.1002/..
 
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12

Clonal expansion of mtDNA deletions: different disease mode..:

Trifunov, Selena ; Pyle, Angela ; Valentino, Maria Lucia...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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13

Genetic heterogeneity of motor neuropathies:

Bansagi, Boglarka ; Griffin, Helen ; Whittaker, Roger G....
Neurology.  88 (2017)  13 - p. 1226-1234 , 2017
Link: https://doi.org/10.1212/..
 
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14

Novel genetic and neuropathological insights in neurogenic ..:

Claeys, Kristl G. ; Abicht, Angela ; Häusler, Martin...
Muscle & Nerve.  54 (2016)  2 - p. 328-333 , 2016
Link: https://doi.org/10.1002/..
 
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15

Mitochondrial dysfunction in liver failure requiring transp..:

Lane, Maria ; Boczonadi, Veronika ; Bachtari, Sahar...
Journal of Inherited Metabolic Disease.  39 (2016)  3 - p. 427-436 , 2016
Link: https://doi.org/10.1007/..
 
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