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HELBIG, INGO
537
results:
Search for persons
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Format
Online (537)
Mediatypes
E-Books (1)
Articles (Online) (193)
Bookchapter (Online) (12)
OpenAccess-fulltext (331)
Languages
english (485)
german (8)
Sorted by: Relevance
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?
1
Biallelic CRELD1 variants cause a multisystem syndrome, inc..:
Jeffries, Lauren
;
Mis, Emily K.
;
McWalter, Kirsty
...
Genetics in Medicine. 26 (2024) 2 - p. 101023 , 2024
Link:
https://doi.org/10.1016/..
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2
101 Predictive Model for Aiding in Early Common Variable Im..:
Alsaati, Nouf
;
Penney, Chris
;
Helbig, Ingo
.
Clinical Immunology. 262 (2024) - p. 110043 , 2024
Link:
https://doi.org/10.1016/..
?
3
Molecular and cellular context influences SCN8A variant fun..:
Vanoye, Carlos G.
;
Abramova, Tatiana V.
;
DeKeyser, Jean-Marc
...
JCI Insight. 9 (2024) 12 - p. , 2024
Link:
https://doi.org/10.1172/..
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4
STXBP1: fast-forward to a brighter future – a patient organ..:
Goss, James R.
;
Prosser, Benjamin
;
Helbig, Ingo
.
Therapeutic Advances in Rare Disease. 5 (2024) - p. , 2024
Link:
https://doi.org/10.1177/..
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5
Early life seizures and epileptic spasms in STXBP1‐related ..:
Thalwitzer, Kim M.
;
Xian, Julie
;
de Campo, Danielle
...
Epilepsia. 65 (2024) 3 - p. 805-816 , 2024
Link:
https://doi.org/10.1111/..
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6
Molecular dynamics simulations reveal molecular mechanisms ..:
Bhattarai, Nisha
;
Montanucci, Ludovica
;
Bruenger, Tobias
...
Biophysical Journal. 123 (2024) 3 - p. 109a-110a , 2024
Link:
https://doi.org/10.1016/..
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7
P151: Enhancing understanding of SCN1A-related disorders th..:
Prentice, Anna
;
Cohen, Stacey
;
McKeown, Sarah
...
Genetics in Medicine Open. 2 (2024) - p. 101048 , 2024
Link:
https://doi.org/10.1016/..
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8
Advances in big data and omics: Paving the way for discover..:
Magielski, Jan
;
McSalley, Ian
;
Parthasarathy, Shridhar
...
Current Problems in Pediatric and Adolescent Health Care. , 2024
Link:
https://doi.org/10.1016/..
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9
De novo GRIN variants in M3 helix associated with neurologi..:
Xu, Yuchen
;
Song, Rui
;
Perszyk, Riley E.
...
Cellular and Molecular Life Sciences. 81 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1007/..
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10
Expanding the clinical phenotype and variant spectrum assoc..:
Sisroe, Talia
;
Santos, Attila Dos
;
Rippert, Alyssa L.
...
American Journal of Medical Genetics Part A. , 2024
Link:
https://doi.org/10.1002/..
?
11
Clinical signatures of genetic epilepsies precede diagnosis..:
Galer, Peter D.
;
Parthasarathy, Shridhar
;
Xian, Julie
...
Genetics in Medicine. , 2024
Link:
https://doi.org/10.1016/..
?
12
A structurally precise mechanism links an epilepsy-associat..:
Clatot, Jerome
;
Currin, Christopher B.
;
Liang, Qiansheng
...
Proceedings of the National Academy of Sciences. 121 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1073/..
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13
P347: RareResolve: Gene-humanized animal models for resolvi..:
Hopkins, Christopher
;
Brock, Trisha
;
McCormick, Kathryn
..
Genetics in Medicine Open. 2 (2024) - p. 101241 , 2024
Link:
https://doi.org/10.1016/..
?
14
A single-cell transcriptome atlas of glial diversity in the..:
Su, Yijing
;
Zhou, Yi
;
Bennett, Mariko L.
...
Cell Stem Cell. 30 (2023) 1 - p. 113 , 2023
Link:
https://doi.org/10.1016/..
?
15
Investigating the genetic contribution in febrile infection..:
deCampo, Danielle
;
Xian, Julie
;
Karlin, Alexis
...
Frontiers in Neurology. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
1-15