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Grochowsky, Angela
11  results:
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1

Biallelic variants in GTF3C5, a regulator of RNA polymerase..:

Iwata-Otsubo, Aiko ; Skraban, Cara M. ; Yoshimura, Atsunori...
Human Genetics.  143 (2024)  3 - p. 437-453 , 2024
Link: https://doi.org/10.1007/..
 
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2

Collaborative efforts to improve genetic testing in the neo..:

Schuler, Bryce A. ; Mosera, Mackenzie ; Hatch, L. Dupree..
Journal of Perinatology.  43 (2023)  12 - p. 1500-1505 , 2023
Link: https://doi.org/10.1038/..
 
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3

eP029: Response of an infant with presumed type II multiple..:

Schuler, Bryce ; Nelson, Erica ; Owen, Natalie...
Genetics in Medicine.  24 (2022)  3 - p. S19 , 2022
Link: https://doi.org/10.1016/..
 
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4

eP396: Collaborative efforts between clinical genetics, cyt..:

Schuler, Bryce ; Grochowsky, Angela ; Hatch, L. Dupree.
Genetics in Medicine.  24 (2022)  3 - p. S249 , 2022
Link: https://doi.org/10.1016/..
 
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5

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome..:

Tekendo-Ngongang, Cedrik ; Grochowsky, Angela ; Solomon, Benjamin D..
Genes.  12 (2021)  11 - p. 1669 , 2021
Link: https://doi.org/10.3390/..
 
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6

Use of dexamethasone in idiopathic, acute pediatric rhabdom..:

Summerlin, Maxwell L. ; Regier, Debra S. ; Fraser, Jamie L....
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 500-507 , 2020
Link: https://doi.org/10.1002/..
 
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7

Clinical characteristics of individual organ system disease..:

Grochowsky, Angela ; Gunay-Aygun, Meral ; Gunay-Aygun, Meral
Translational Science of Rare Diseases.  4 (2019)  1-2 - p. 1-23 , 2019
Link: https://doi.org/10.3233/..
 
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8

Enlarged parietal foramina: a review of genetics, prognosis..:

Griessenauer, Christoph J. ; Veith, Philip ; Mortazavi, Martin M....
Child's Nervous System.  29 (2012)  4 - p. 543-547 , 2012
Link: https://doi.org/10.1007/..
 
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9

The D409H variant in GBA1: Challenges in predicting the Gau..:

Gleason, Adenrele M. ; D'Souza, Andrea ; Ryan, Emory...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1783-1791 , 2023
Link: https://doi.org/10.1002/..
 
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10

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome..:

Cedrik Tekendo-Ngongang ; Angela Grochowsky ; Benjamin D. Solomon.
https://www.mdpi.com/2073-4425/12/11/1669.  , 2021
Link: https://doi.org/10.3390/..
 
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11

Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome..:

Cedrik Tekendo-Ngongang ; Angela Grochowsky ; Benjamin D. Solomon.
Molecular Genetics and Genomics.  , 2021
Link: https://doi.org/10.3390/..
 
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