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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 5, 2022
Response on EJPN-S-21-00580
Nataliya Di Donato
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 1, 2022
Diagnostic pitfalls in patients with malformations of cortical development
Jan Fischer, Nataliya Di Donato
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 3, 2021
Lissencephaly: Update on diagnostics and clinical management
Matti Koenig, William B Dobyns, Nataliya Di Donato
Brain Structure & Function
|
May 2, 2015
Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture
Christian Beste, Sebastian Ocklenburg, Maja von der Hagen, et al.
Frontiers in Pediatrics
|
April 25, 2024
Current genetic diagnostics in inborn errors of immunity
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, et al.
Orphanet Journal of Rare Diseases
|
March 26, 2014
Clinical phenotypes of MAGEL2 mutations and deletions
Karin Buiting, Nataliya Di Donato, Jasmin Beygo, et al.
American Journal of Medical Genetics. Part A
|
September 4, 2015
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities
Luisa Mackenroth, Karl Hackmann, Anke Beyer, et al.
Epilepsy & Behavior : E&B
|
February 27, 2017
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome
Burkhard S Kasper, Arnd Dörfler, Nataliya Di Donato, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern
Anna Podolska, Albrecht Kobelt, Sigrid Fuchs, et al.
American Journal of Medical Genetics. Part A
|
October 7, 2020
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families
Caitlin A Chang, Nataliya Di Donato, Karl Hackmann, et al.
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of 10
Search research articles
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Showing results (1-10 of 91) with videos related to
Sort By:
Page
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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 5, 2022
Response on EJPN-S-21-00580
Nataliya Di Donato
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 1, 2022
Diagnostic pitfalls in patients with malformations of cortical development
Jan Fischer, Nataliya Di Donato
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 3, 2021
Lissencephaly: Update on diagnostics and clinical management
Matti Koenig, William B Dobyns, Nataliya Di Donato
Brain Structure & Function
|
May 2, 2015
Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture
Christian Beste, Sebastian Ocklenburg, Maja von der Hagen, et al.
Frontiers in Pediatrics
|
April 25, 2024
Current genetic diagnostics in inborn errors of immunity
Sandra von Hardenberg, Isabel Klefenz, Doris Steinemann, et al.
Orphanet Journal of Rare Diseases
|
March 26, 2014
Clinical phenotypes of MAGEL2 mutations and deletions
Karin Buiting, Nataliya Di Donato, Jasmin Beygo, et al.
American Journal of Medical Genetics. Part A
|
September 4, 2015
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities
Luisa Mackenroth, Karl Hackmann, Anke Beyer, et al.
Epilepsy & Behavior : E&B
|
February 27, 2017
Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome
Burkhard S Kasper, Arnd Dörfler, Nataliya Di Donato, et al.
American Journal of Medical Genetics. Part A
|
April 4, 2017
Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern
Anna Podolska, Albrecht Kobelt, Sigrid Fuchs, et al.
American Journal of Medical Genetics. Part A
|
October 7, 2020
Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families
Caitlin A Chang, Nataliya Di Donato, Karl Hackmann, et al.
Page
of 10