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Elbracht, Miriam
143  Ergebnisse:
Personensuche X
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1

Germline biallelic BRCA2 pathogenic variants and medullobla..:

Kastellan, Svenja ; Kalb, Reinhard ; Sajjad, Bia...
Journal of Hematology & Oncology.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Combination of nivolumab with standard induction chemothera..:

Römer, Tristan ; Vokuhl, Christian ; Staatz, Gundula...
HNO.  72 (2024)  6 - p. 423-439 , 2024
Link: https://doi.org/10.1007/..
 
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3

Stand der humangenetischen Versorgung in der Pädiatrie: Ant..:

Elbracht, Miriam ; Kurth, Ingo ; Kubisch, Christian.
Pädiatrie.  36 (2024)  1 - p. 32-35 , 2024
Link: https://doi.org/10.1007/..
 
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4

Enhancing Variant Prioritization in VarFish through On-Prem..:

Bhasin, Meghna Ahuja ; Knaus, Alexej ; Incardona, Pietro...
Genes.  15 (2024)  3 - p. 370 , 2024
Link: https://doi.org/10.3390/..
 
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5

Humangenetische Diagnostik bei onkologischen Erkrankungen; ..:

Elbracht, Miriam ; Auber, Bernd ; Kurth, Ingo...
Die Onkologie.  , 2024
Link: https://doi.org/10.1007/..
 
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6

De novo variants in RNF213 are associated with a clinical s..:

Brunet, Theresa ; Zott, Benedikt ; Lieftüchter, Victoria...
Genetics in Medicine.  26 (2024)  2 - p. 101013 , 2024
Link: https://doi.org/10.1016/..
 
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7

Benchmarking whole exome sequencing in the German network f..:

Menzel, Michael ; Martis-Thiele, Mihaela ; Goldschmid, Hannah...
European Journal of Cancer.  211 (2024)  - p. 114306 , 2024
Link: https://doi.org/10.1016/..
 
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8

3-jähriger Patient mit bilateralen Wilms-Tumoren; 3-year-ol..:

Elbracht, Miriam ; Eggermann, Thomas ; Kurth, Ingo
Monatsschrift Kinderheilkunde.  171 (2023)  S2 - p. 84-89 , 2023
Link: https://doi.org/10.1007/..
 
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9

DDX41 germline variants causing donor cell leukemia indicat..:

Rolles, Benjamin ; Meyer, Robert ; Begemann, Matthias...
Blood Cancer Journal.  13 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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10

GermlineC1GALT1C1mutation causes a multisystem chaperonopat..:

Erger, Florian ; Aryal, Rajindra P. ; Reusch, Björn...
Proceedings of the National Academy of Sciences.  120 (2023)  22 - p. , 2023
Link: https://doi.org/10.1073/..
 
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11

P196: GestaltMatcher Database: A FAIR database for medical ..:

Lesmann, Hellen ; Moosa, Shahida ; Pantel, Tori...
Genetics in Medicine Open.  1 (2023)  1 - p. 100225 , 2023
Link: https://doi.org/10.1016/..
 
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12

Imprinting disorders:

Eggermann, Thomas ; Monk, David ; de Nanclares, Guiomar Perez...
Nature Reviews Disease Primers.  9 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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13

Prenatal testing for Imprinting Disorders: A clinical persp..:

Dufke, Andreas ; Eggermann, Thomas ; Kagan, Karl Oliver..
Prenatal Diagnosis.  43 (2023)  8 - p. 983-992 , 2023
Link: https://doi.org/10.1002/..
 
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14

Molecular characterisation of 36 multilocus imprinting dist..:

Bilo, Larissa ; Ochoa, Eguzkine ; Lee, Sunwoo...
Clinical Epigenetics.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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15

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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