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Barrick, Rebekah
20  results:
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1

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD)..:

Mares Beltran, Carlos F. ; Tise, Christina G. ; Barrick, Rebekah...
Genes.  15 (2024)  7 - p. 838 , 2024
Link: https://doi.org/10.3390/..
 
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2

Leukoencephalopathy with Brain stem and Spinal cord involve..:

Huang, Wei-Lin ; Steenari, Maija R. ; Barrick, Rebekah...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101025 , 2024
Link: https://doi.org/10.1016/..
 
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3

Stretch-activated ion channel TMEM63B associates with devel..:

Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona...
The American Journal of Human Genetics.  110 (2023)  8 - p. 1356-1376 , 2023
Link: https://doi.org/10.1016/..
 
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4

BIOCHEMICAL, MOLECULAR, AND CLINICAL CHARACTERISTICS OF PER..:

Beltran, Carlos Mares ; Abdenur, Jose ; Chang, Richard...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107455 , 2023
Link: https://doi.org/10.1016/..
 
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5

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
Genetics in Medicine.  24 (2022)  4 - p. 880-893 , 2022
Link: https://doi.org/10.1016/..
 
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6

Dominantly acting KIF5B variants with pleiotropic cellular ..:

Flex, Elisabetta ; Albadri, Shahad ; Radio, Francesca Clementina...
Human Molecular Genetics.  32 (2022)  3 - p. 473-488 , 2022
Link: https://doi.org/10.1093/..
 
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7

Population-level deficit of homozygosity unveils CPSF3 as a..:

Arnadottir, Gudny A. ; Oddsson, Asmundur ; Jensson, Brynjar O....
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

Stretch-activated ion channel TMEM63B associates with devel..:

Conti, Valerio ; Giubbolini, Simone ; Barrick, Rebekah...
qt4bb0k2qj.  , 2023
Link: https://escholarship.org..
 
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9

Leukoencephalopathy with Brain stem and Spinal cord involve..:

Huang, Wei-Lin ; Steenari, Maija R ; Barrick, Rebekah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10731372/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

Stretch-activated ion channel TMEM63B associates with devel..:

Vetro, Annalisa ; Pelorosso, Cristiana ; Balestrini, Simona...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10432263/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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11

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
https://www.repository.cam.ac.uk/handle/1810/338278.  , 2022
Link: https://www.repository.c..
 
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12

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8986325/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

Expanding the genotype and phenotype spectrum of SYT1-assoc..:

Melland, Holly ; Bumbak, Fabian ; Kolesnik-Taylor, Anna...
https://discovery.ucl.ac.uk/id/eprint/10143147/1/Kurian_Expanding%20the%20genotype%20and%20phenotype%20spectrum%20of%20SYT1-associated%20neurodevelopmental%20disorder_AOP.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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14

Population-level deficit of homozygosity unveils CPSF3 as a..:

Árnadóttir, Guðný Anna ; Oddsson, Asmundur ; Jensson, Brynjar O...
Nature Communications; 13(1).  , 2022
Link: https://hdl.handle.net/2..
 
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15

Population-level deficit of homozygosity unveils CPSF3 as a..:

Arnadottir, Gudny A ; Oddsson, Asmundur ; Jensson, Brynjar O...
https://www.nature.com/articles/s41467-022-28330-8.  , 2022
Link: http://hdl.handle.net/23..
 
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