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Di Donato, Nataliya
120  results:
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1

Current genetic diagnostics in inborn errors of immunity:

von Hardenberg, Sandra ; Klefenz, Isabel ; Steinemann, Doris...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

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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3

The non-muscle actinopathy-associated mutation E334Q in cyt..:

Greve, Johannes N ; Marquardt, Anja ; Heiringhoff, Robin...
eLife.  12 (2024)  - p. , 2024
Link: https://doi.org/10.7554/..
 
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4

The non-muscle actinopathy-associated mutation E334Q in cyt..:

Greve, Johannes N ; Marquardt, Anja ; Heiringhoff, Robin...
eLife.  12 (2024)  - p. , 2024
Link: https://doi.org/10.7554/..
 
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5

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1068-1085 , 2023
Link: https://doi.org/10.1016/..
 
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6

Assessment of the cytoskeletal impact of beta-actin mutatio..:

Battirossi, Elena ; Niehaus, Indra ; Prift, Kejsi...
Biophysical Journal.  122 (2023)  3 - p. 195a , 2023
Link: https://doi.org/10.1016/..
 
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7

Monoallelic and biallelic mutations in RELN underlie a grad..:

Di Donato, Nataliya ; Guerrini, Renzo ; Billington Jr, Charles J...
Brain.  145 (2022)  9 - p. 3274-3287 , 2022
Link: https://doi.org/10.1093/..
 
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8

Clinical and functional characterization of germline PIK3CA..:

Cooley Coleman, Jessica A ; Gass, Jennifer M ; Srikanth, Sujata...
Human Molecular Genetics.  32 (2022)  9 - p. 1457-1465 , 2022
Link: https://doi.org/10.1093/..
 
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9

Frameshift mutation S368fs in the gene encoding cytoskeleta..:

Greve, Johannes N. ; Schwäbe, Frederic V. ; Pokrant, Thomas...
European Journal of Cell Biology.  101 (2022)  2 - p. 151216 , 2022
Link: https://doi.org/10.1016/..
 
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10

Diagnostic pitfalls in patients with malformations of corti..:

Fischer, Jan ; Di Donato, Nataliya
European Journal of Paediatric Neurology.  37 (2022)  - p. 123-128 , 2022
Link: https://doi.org/10.1016/..
 
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11

Response on EJPN-S-21-00580:

Di Donato, Nataliya
European Journal of Paediatric Neurology.  37 (2022)  - p. 166 , 2022
Link: https://doi.org/10.1016/..
 
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12

The constitutional gain‐of‐function variant p.Glu1099Lys in..:

Popp, Bernt ; Brugger, Melanie ; Poschmann, Sibylle...
Clinical Genetics.  103 (2022)  2 - p. 226-230 , 2022
Link: https://doi.org/10.1111/..
 
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13

Biallelic UBE4A loss-of-function variants cause intellectua..:

Melo, Uirá Souto ; Bonner, Devon ; Kent Lloyd, Kevin C....
Genetics in Medicine.  23 (2021)  4 - p. 661-668 , 2021
Link: https://doi.org/10.1038/..
 
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14

Proximal variants in CCND2 associated with microcephaly, sh..:

Pirozzi, Filomena ; Lee, Benson ; Horsley, Nicole...
American Journal of Medical Genetics Part A.  185 (2021)  9 - p. 2719-2738 , 2021
Link: https://doi.org/10.1002/..
 
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15

Lissencephaly: Update on diagnostics and clinical managemen:

Koenig, Matti ; Dobyns, William B. ; Di Donato, Nataliya
European Journal of Paediatric Neurology.  35 (2021)  - p. 147-152 , 2021
Link: https://doi.org/10.1016/..
 
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