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Bahena, Paulina
16  results:
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1

Biallelic variants in KARS1 are associated with neurodevelo..:

Lin, Sheng-Jia ; Vona, Barbara ; Barbalho, Patricia G....
Genetics in Medicine.  23 (2021)  10 - p. 1933-1943 , 2021
Link: https://doi.org/10.1038/..
 
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2

Unraveling the genetic complexities of combined retinal dys..:

Bahena, Paulina ; Daftarian, Narsis ; Maroofian, Reza...
Human Genetics.  141 (2021)  3-4 - p. 785-803 , 2021
Link: https://doi.org/10.1007/..
 
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3

A novel missense variant in MYO3A is associated with autoso..:

Doll, Julia ; Hofrichter, Michaela A. H. ; Bahena, Paulina...
Molecular Genetics & Genomic Medicine.  8 (2020)  8 - p. , 2020
Link: https://doi.org/10.1002/..
 
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4

Expanding the clinical phenotype of IARS2-related mitochond..:

Vona, Barbara ; Maroofian, Reza ; Bellacchio, Emanuele...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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5

Unraveling the genetic complexities of combined retinal dys..:

Bahena, Paulina ; Daftarian, Narsis ; Maroofian, Reza...
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/26775.  , 2022
Link: https://opus.bibliothek...
 
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6

Unraveling the genetic complexities of combined retinal dys..:

Bahena, Paulina ; Daftarian, Narsis ; Maroofian, Reza...
https://repository.publisso.de/resource/frl:6446836.  , 2021
Link: https://repository.publi..
 
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7

A novel missense variant in MYO3A is associated with autoso..:

Doll, Julia ; Hofrichter, Michaela A. H ; Bahena, Paulina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434730/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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8

Expanding the clinical phenotype of IARS2-related mitochond..:

Vona, Barbara ; Maroofian, Reza ; Bellacchio, Emanuele...
716344.  , 2018
Link: https://opus.bibliothek...
 
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9

Expanding the clinical phenotype of IARS2-related mitochond..:

Vona, Barbara ; Maroofian, Reza ; Bellacchio, Emanuele...
https://freidok.uni-freiburg.de/data/148002.  , 2018
Link: https://freidok.uni-frei..
 
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10

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Lo..:

Vona, Barbara ; Maroofian, Reza ; Mendiratta, Geetu...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803684/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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11

Recurrent De Novo Mutations Affecting Residue Arg1 38 of Py..:

Fischer-Zirnsak, Bjoern ; Escande-Beillard, Nathalie ; Ganesh, Jaya...
https://research.rug.nl/en/publications/1f0002eb-4e45-4ad1-9eb0-7b67e9270ecc.  , 2015
Link: https://hdl.handle.net/1..
 
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12

A novel missense variant in MYO3A is associated with autoso..:

Julia Doll ; Michaela A. H. Hofrichter ; Paulina Bahena...
https://doi.org/10.1002/mgg3.1343.  , 2020
Link: https://doi.org/10.1002/..
 
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13

Expanding the clinical phenotype of IARS2-related mitochond..:

Barbara Vona ; Reza Maroofian ; Emanuele Bellacchio...
http://link.springer.com/article/10.1186/s12881-018-0709-3.  , 2018
Link: https://doi.org/10.1186/..
 
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14

Ruxolitinib as a treatment strategy for SARS-CoV-2 pneumoni..:

Ovilla-Martinez, Roberto ; Cota-Rangel, Xochitl ; De La Peña-Celaya, Jose...
The Journal of Infection in Developing Countries.  16 (2022)  1 - p. 63-72 , 2022
Link: https://doi.org/10.3855/..
 
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15

Plant Growth-Promoting Traits in Rhizobacteria of Heavy Met..:

ROMÁN-PONCE, Brenda ; REZA-VÁZQUEZ, Diana Miryel ; GUTIÉRREZ-PAREDES, Sonia...
Pedosphere.  27 (2017)  3 - p. 511-526 , 2017
Link: https://doi.org/10.1016/..
 
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