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Ehmke, Nadja
77  results:
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1

RNA analysis and computer‐aided facial phenotyping help to ..:

Schwartzmann, Sarina ; Zhao, Max ; Sczakiel, Henrike Lisa...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

Loss-of-function variants affecting the STAGA complex compo..:

Kopp, Johannes ; Koch, Leonard A. ; Lyubenova, Hristiana...
Human Genetics.  143 (2024)  5 - p. 683-694 , 2024
Link: https://doi.org/10.1007/..
 
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3

REEV: review, evaluate and explain variants:

Hramyka, Dzmitry ; Sczakiel, Henrike Lisa ; Zhao, Max Xiaohang...
Nucleic Acids Research.  52 (2024)  W1 - p. W148-W158 , 2024
Link: https://doi.org/10.1093/..
 
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4

Broadening the phenotypic and molecular spectrum of FINCA s..:

Sczakiel, Henrike L. ; Zhao, Max ; Wollert-Wulf, Brigitte...
European Journal of Human Genetics.  31 (2023)  8 - p. 905-917 , 2023
Link: https://doi.org/10.1038/..
 
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5

Genetic Diagnostics in Routine Osteological Assessment of A..:

Oheim, Ralf ; Tsourdi, Elena ; Seefried, Lothar...
The Journal of Clinical Endocrinology & Metabolism.  107 (2022)  7 - p. e3048-e3057 , 2022
Link: https://doi.org/10.1210/..
 
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6

GestaltMatcher facilitates rare disease matching using faci..:

Hsieh, Tzung-Chien ; Bar-Haim, Aviram ; Moosa, Shahida...
Nature Genetics.  54 (2022)  3 - p. 349-357 , 2022
Link: https://doi.org/10.1038/..
 
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7

Novel mutation and expanding phenotype in IRF2BP2 deficienc:

Körholz, Julia ; Gabrielyan, Anastasia ; Sczakiel, Henrike Lisa...
Rheumatology.  62 (2022)  4 - p. 1699-1705 , 2022
Link: https://doi.org/10.1093/..
 
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8

Alternative splicing of BUD13 determines the severity of a ..:

Kornak, Uwe ; Saha, Namrata ; Keren, Boris...
Genetics in Medicine.  24 (2022)  9 - p. 1927-1940 , 2022
Link: https://doi.org/10.1016/..
 
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9

Identifizierung neuer Krankheitsgene als Ursache für Skele..:

Ehmke, Nadja , 2021
Link: https://nbn-resolving.de..
 
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10

CDK19-related disorder results from both loss-of-function a..:

Zarate, Yuri A. ; Uehara, Tomoko ; Abe, Kota...
Genetics in Medicine.  23 (2021)  6 - p. 1050-1057 , 2021
Link: https://doi.org/10.1038/..
 
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11

Biallelic truncating variants in MAPKAPK5 cause a new devel..:

Horn, Denise ; Fernández-Núñez, Elisa ; Gomez-Carmona, Ricardo...
Genetics in Medicine.  23 (2021)  4 - p. 679-688 , 2021
Link: https://doi.org/10.1038/..
 
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12

Genomic Aspects for the Diagnosis of Craniofacial Disorders:

, In: Fundamentals of Craniofacial Malformations,
Kerkfeld, Valentin ; Meyer, Ulrich ; Raem, Arnold. - p. 299-308 , 2021
Link: https://doi.org/10.1007/..
 
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13

CADA: phenotype-driven gene prioritization based on a case-..:

Peng, Chengyao ; Dieck, Simon ; Schmid, Alexander...
NAR Genomics and Bioinformatics.  3 (2021)  3 - p. , 2021
Link: https://doi.org/10.1093/..
 
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14

Biallelic truncating variants in ATP9A cause a novel neurod..:

Vogt, Guido ; Verheyen, Sarah ; Schwartzmann, Sarina...
Journal of Medical Genetics.  59 (2021)  7 - p. 662-668 , 2021
Link: https://doi.org/10.1136/..
 
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15

Variants in the SK2 channel gene (KCNN2) lead to dominant n..:

Mochel, Fanny ; Rastetter, Agnès ; Ceulemans, Berten...
Brain.  143 (2020)  12 - p. 3564-3573 , 2020
Link: https://doi.org/10.1093/..
 
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