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Álvarez, Raquel
4747  Ergebnisse:
Personensuche X
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1

Cohort expansion and genotype-phenotype analysis of RAB11A-..:

Borroto, Maria C. ; Patel, Heena ; Srivastava, Siddharth...
Pediatric Neurology.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Large-scale mutational analysis identifies UNC93B1 variants..:

Rael, Victoria E. ; Yano, Julian A. ; Huizar, John P....
Journal of Experimental Medicine.  221 (2024)  8 - p. , 2024
Link: https://doi.org/10.1084/..
 
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3

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

O42: Development of an anti-sense oligonucleotide therapeut..:

Wheeler, Matthew ; Bonner, Devon ; Alvarez, Raquel...
Genetics in Medicine Open.  2 (2024)  - p. 101025 , 2024
Link: https://doi.org/10.1016/..
 
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5

Loss-of-function in RBBP5 results in a syndromic neurodevel..:

Huang, Yue ; Jay, Kristy L. ; Huang, Alden Yen-Wen...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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6

P639: Large-scale genome reanalysis of 159 individuals affe..:

Mendez, Hector ; Bonner, Devon ; Reuter, Chloe...
Genetics in Medicine Open.  2 (2024)  - p. 101545 , 2024
Link: https://doi.org/10.1016/..
 
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7

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine.  26 (2024)  6 - p. 101115 , 2024
Link: https://doi.org/10.1016/..
 
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8

Loss of function of FAM177A1, a Golgi complex localized pro..:

Kohler, Jennefer N. ; Legro, Nicole R. ; Baldridge, Dustin...
Genetics in Medicine.  26 (2024)  9 - p. 101166 , 2024
Link: https://doi.org/10.1016/..
 
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9

Considerations for reporting variants in novel candidate ge..:

Chong, Jessica X. ; Berger, Seth I. ; Baxter, Samantha...
Genetics in Medicine.  , 2024
Link: https://doi.org/10.1016/..
 
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10

Promising anti-proliferative indolic benzenesulfonamides al..:

Fuentes-Martín, Raúl ; Ayuda-Durán, Pilar ; Hanes, Robert...
European Journal of Medicinal Chemistry.  275 (2024)  - p. 116617 , 2024
Link: https://doi.org/10.1016/..
 
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11

Biallelic variants in ribonuclease inhibitor (RNH1), an inf..:

Shashi, Vandana ; Schoch, Kelly ; Ganetzky, Rebecca...
Genetics in Medicine.  25 (2023)  9 - p. 100897 , 2023
Link: https://doi.org/10.1016/..
 
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12

Novel amino analogs of the trimethoxyphenyl ring in potent ..:

González, Myriam ; Ellahioui, Younes ; Gallego, Laura...
Bioorganic Chemistry.  131 (2023)  - p. 106282 , 2023
Link: https://doi.org/10.1016/..
 
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13

Frentizole, a Nontoxic Immunosuppressive Drug, and Its Anal..:

Ramos, Sergio ; Vicente-Blázquez, Alba ; López-Rubio, Marta...
International Journal of Molecular Sciences.  24 (2023)  24 - p. 17474 , 2023
Link: https://doi.org/10.3390/..
 
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14

Bi-allelic ATG4D variants are associated with a neurodevelo..:

Morimoto, Marie ; Bhambhani, Vikas ; Gazzaz, Nour...
npj Genomic Medicine.  8 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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15

De novo variants in MRTFB have gain-of-function activity in..:

Andrews, Jonathan C. ; Mok, Jung-Wan ; Kanca, Oguz...
Genetics in Medicine.  25 (2023)  6 - p. 100833 , 2023
Link: https://doi.org/10.1016/..
 
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