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Graessner, Holm
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1

Quality assurance for next-generation sequencing diagnostic..:

Maver, Aleš ; Lohmann, Katja ; Borovečki, Fran...
European Journal of Human Genetics.  32 (2024)  8 - p. 1014-1021 , 2024
Link: https://doi.org/10.1038/..
 
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2

Inventory of current practices regarding hematopoietic stem..:

Schoenmakers, Daphne H. ; Mochel, Fanny ; Adang, Laura A....
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

Structural variant calling and clinical interpretation in 6..:

Demidov, German ; Laurie, Steven ; Torella, Annalaura...
European Journal of Human Genetics.  32 (2024)  8 - p. 998-1004 , 2024
Link: https://doi.org/10.1038/..
 
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4

Recommendations for optimal interdisciplinary management an..:

Graessner, Holm ; Reinhard, Carola ; Bäumer, Tobias...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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5

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal.  53 (2024)  7 - p. 161-165 , 2024
Link: https://doi.org/10.1038/..
 
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6

Global health for rare diseases through primary care:

Baynam, Gareth ; Hartman, Adam L ; Letinturier, Mary Catherine V...
The Lancet Global Health.  12 (2024)  7 - p. e1192-e1199 , 2024
Link: https://doi.org/10.1016/..
 
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7

Framework for Multistakeholder Patient Registries in the Fi..:

Schoenmakers, Daphne H. ; van den Berg, Sibren ; Timmers, Lonneke...
Neurology.  103 (2024)  6 - p. , 2024
Link: https://doi.org/10.1212/..
 
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8

Key priorities in rare neurological diseases: A statement f..:

Mancuso, Michelangelo ; Graessner, Holm ; de Visser, Marianne..
European Journal of Neurology.  30 (2023)  6 - p. 1553-1554 , 2023
Link: https://doi.org/10.1111/..
 
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9

Management of rare movement diseases in different world reg..:

Painous, Celia ; Martí, Maria J. ; Graessner, Holm...
Parkinsonism & Related Disorders.  108 (2023)  - p. 105286 , 2023
Link: https://doi.org/10.1016/..
 
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10

Consensus Recommendations for Clinical Outcome Assessments ..:

Klockgether, Thomas ; Synofzik, Matthis ; Alhusaini, Saud...
The Cerebellum.  23 (2023)  3 - p. 924-930 , 2023
Link: https://doi.org/10.1007/..
 
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11

Rare Diseases in Hospital Information Systems—An Interopera..:

Tahar, Kais ; Martin, Tamara ; Mou, Yongli...
Methods of Information in Medicine.  62 (2023)  3/04 - p. 071-089 , 2023
Link: https://doi.org/10.1055/..
 
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12

Transition for adolescents with a rare disease: results of ..:

Grasemann, Corinna ; Höppner, Jakob ; Burgard, Peter...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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13

Patient pathways for rare diseases in Europe: ataxia as an ..:

Vallortigara, Julie ; Greenfield, Julie ; Hunt, Barry...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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14

Phenotypic similarity-based approach for variant prioritiza..:

Lagorce, David ; Lebreton, Emeline ; Matalonga, Leslie...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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15

Impact of specialist ataxia centres on health service resou..:

Morris, Stephen ; Vallortigara, Julie ; Greenfield, Julie...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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