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Niestroj, Lisa‐Marie
35  Ergebnisse:
Personensuche X
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1

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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2

The genomic landscape across 474 surgically accessible epil..:

López-Rivera, Javier A ; Leu, Costin ; Macnee, Marie...
Brain.  146 (2022)  4 - p. 1342-1356 , 2022
Link: https://doi.org/10.1093/..
 
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3

A cross-disorder dosage sensitivity map of the human genome:

Collins, Ryan L. ; Glessner, Joseph T. ; Porcu, Eleonora...
Cell.  185 (2022)  16 - p. 3041-3055.e25 , 2022
Link: https://doi.org/10.1016/..
 
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4

Genome‐Wide Analysis of Copy Number Variation in Latin Amer..:

Sarihan, Elif Irem ; Pérez‐Palma, Eduardo ; Niestroj, Lisa‐Marie...
Movement Disorders.  36 (2020)  2 - p. 434-441 , 2020
Link: https://doi.org/10.1002/..
 
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5

Epilepsy subtype-specific copy number burden observed in a ..:

Lal, Dennis ; Palotie, Aarno ; Daly, Mark J...
Brain.  143 (2020)  7 - p. 2106-2118 , 2020
Link: https://doi.org/10.1093/..
 
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6

Neurological disorder-associated genetic variants in indivi..:

Leu, Costin ; Bautista, Jocelyn F. ; Sudarsanam, Monica...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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7

Distinct genetic variation and heterogeneity of the Iranian..:

Mehrjoo, Zohreh ; Fattahi, Zohreh ; Beheshtian, Maryam...
PLOS Genetics.  15 (2019)  9 - p. e1008385 , 2019
Link: https://doi.org/10.1371/..
 
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8

Assessment of genetic variant burden in epilepsy-associated..:

Niestroj, Lisa-Marie ; May, Patrick ; Artomov, Mykyta...
European Journal of Human Genetics.  27 (2019)  11 - p. 1738-1744 , 2019
Link: https://doi.org/10.1038/..
 
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9

Identification of pathogenic variant enriched regions acros..:

Pérez-Palma, Eduardo ; May, Patrick ; Iqbal, Sumaiya...
Genome Research.  30 (2019)  1 - p. 62-71 , 2019
Link: https://doi.org/10.1101/..
 
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10

CDKL5 deficiency disorder: Relationship between genotype, e..:

Demarest, Scott T. ; Olson, Heather E. ; Moss, Angela...
Epilepsia.  60 (2019)  8 - p. 1733-1742 , 2019
Link: https://doi.org/10.1111/..
 
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11

Guideline‐based and bioinformatic reassessment of lesion‐as..:

Niestroj, Lisa‐Marie ; Du, Juanjiangmeng ; Nothnagel, Michael...
Epilepsia.  59 (2018)  11 - p. 2145-2152 , 2018
Link: https://doi.org/10.1111/..
 
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12

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan...
qt1135x3gw.  , 2023
Link: https://escholarship.org..
 
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13

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L...
https://resolver.sub.uni-goettingen.de/purl?gro-2/132957.  , 2023
Link: https://resolver.sub.uni..
 
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14

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L...
https://freidok.uni-freiburg.de/data/241151.  , 2023
Link: https://freidok.uni-frei..
 
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15

Genome-wide identification and phenotypic characterization ..:

Montanucci, Ludovica ; Lewis-Smith, David ; Collins, Ryan L...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41467-023-39539-6.  , 2023
Link: https://repository.vu.lt..
 
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