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Bertsch, Nicole L.
34  Ergebnisse:
Personensuche X
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1

Systematic evidence review and meta-analysis of outcomes as..:

Culver, Julie O. ; Bertsch, Nicole L. ; Kurz, Raluca N....
Genetics in Medicine.  26 (2024)  1 - p. 100980 , 2024
Link: https://doi.org/10.1016/..
 
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2

P043: Experiences with VLCADD in the Old Order Amish commun..:

Anderson, Rhonda ; Ammous, Zineb ; Bertsch, Nicole
Genetics in Medicine Open.  2 (2024)  - p. 100920 , 2024
Link: https://doi.org/10.1016/..
 
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3

P119: Molecular basis of adducted thumbs syndrome in the Ol..:

Bertsch, Nicole ; Ammous, Zineb ; Puffenberger, Erik.
Genetics in Medicine Open.  1 (2023)  1 - p. 100148 , 2023
Link: https://doi.org/10.1016/..
 
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4

eP075: The evolution of a diagnostic odyssey:

Ammous, Zineb ; Bertsch, Nicole ; Anderson, Rhonda...
Genetics in Medicine.  24 (2022)  3 - p. S49 , 2022
Link: https://doi.org/10.1016/..
 
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5

eP076: Pancreatic lipase deficiency cohort in the plain pop..:

Anderson, Rhonda ; Ammous, Zeinab ; Bertsch, Nicole
Genetics in Medicine.  24 (2022)  3 - p. S50 , 2022
Link: https://doi.org/10.1016/..
 
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6

eP085: Phenotype of two old order Amish patients with NOD2 ..:

Bertsch, Nicole ; Ammous, Zeinab
Genetics in Medicine.  24 (2022)  3 - p. S56 , 2022
Link: https://doi.org/10.1016/..
 
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7

Diagnosing copy number variation disorders via multigene pa..:

Bertsch, Nicole ; Ammous, Zeinab
Molecular Genetics and Metabolism.  132 (2021)  - p. S109 , 2021
Link: https://doi.org/10.1016/..
 
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8

A second cohort of CHD3 patients expands the molecular mech..:

Drivas, Theodore G. ; Li, Dong ; Nair, Divya...
European Journal of Human Genetics.  28 (2020)  10 - p. 1422-1431 , 2020
Link: https://doi.org/10.1038/..
 
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9

Biallelic variants in PROZ as a cause of hypercoagulability..:

Pinto e Vairo, Filippo ; Kroc, Sarah A. ; Bertsch, Nicole L....
Thrombosis Research.  195 (2020)  - p. 187-189 , 2020
Link: https://doi.org/10.1016/..
 
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10

De novo DDX3X missense variants in males appear viable and ..:

Nicola, Pantelis ; Blackburn, Patrick R. ; Rasmussen, Kristen J....
American Journal of Medical Genetics Part A.  179 (2019)  4 - p. 570-578 , 2019
Link: https://doi.org/10.1002/..
 
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11

Perspectives on facilitating whole exome sequencing for int..:

Bertsch, Nicole ; Agre, Katherine ; Ewing, Sarah...
Journal of Genetic Counseling.  28 (2019)  2 - p. 398-406 , 2019
Link: https://doi.org/10.1002/..
 
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12

GFAP canonical transcript may not be suitable for the diagn..:

Pinto e Vairo, Filippo ; Bertsch, Nicole ; Klee, Eric W..
Acta Neuropathologica Communications.  6 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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13

A second cohort of CHD3 patients expands the molecular mech..:

Drivas, Theodore G ; Li, Dong ; Nair, Divya...
https://ir.lib.uwo.ca/paedpub/391.  , 2020
Link: https://ir.lib.uwo.ca/pa..
 
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14

P119: Molecular basis of adducted thumbs syndrome in the Ol..:

Nicole Bertsch ; Zineb Ammous ; Erik Puffenberger.
http://www.sciencedirect.com/science/article/pii/S2949774423001486.  , 2023
Link: https://doi.org/10.1016/..
 
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15

GFAP canonical transcript may not be suitable for the diagn..:

Filippo Pinto e Vairo ; Nicole Bertsch ; Eric W. Klee.
http://link.springer.com/article/10.1186/s40478-018-0616-z.  , 2018
Link: https://doi.org/10.1186/..
 
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