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Siemon, Amy
17
results:
Search for persons
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Format
Online (17)
Mediatypes
Articles (Online) (8)
OpenAccess-fulltext (9)
Sorted by: Relevance
Sorted by: Year
?
1
Clinically significant findings in a decade‐long retrospect..:
Olayiwola, Joie O.
;
Marhabaie, Mohammad
;
Koboldt, Daniel
...
Molecular Genetics & Genomic Medicine. 12 (2024) 3 - p. , 2024
Link:
https://doi.org/10.1002/..
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2
ANALYSIS OF URINE HEPARAN SULFATE AND ITS NON-REDUCING ENDS..:
Kaczmarczyk, Aneta
;
Lasio, Laura Duque
;
Viskochil, David
...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 281-282 , 2022
Link:
https://doi.org/10.1016/..
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3
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ..:
Arredondo, Kristen
;
Myers, Cortlandt
;
Hansen-Kiss, Emily
...
Journal of Child Neurology. 37 (2022) 6 - p. 517-523 , 2022
Link:
https://doi.org/10.1177/..
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4
Pathogenic variants inSMARCA5, a chromatin remodeler, cause..:
Li, Dong
;
Wang, Qin
;
Gong, Naihua N.
...
Science Advances. 7 (2021) 20 - p. , 2021
Link:
https://doi.org/10.1126/..
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5
De novo variants in H3-3A and H3-3B are associated with neu..:
Okur, Volkan
;
Chen, Zefu
;
Vossaert, Liesbeth
...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1038/..
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6
A qualitative assessment of parental experiences with false..:
Peterson, Laiken
;
Siemon, Amy
;
Olewiler, Leah
..
Journal of Genetic Counseling. 31 (2021) 1 - p. 252-260 , 2021
Link:
https://doi.org/10.1002/..
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7
Incorporation of Second-Tier Biomarker Testing Improves the..:
Peck, Dawn S.
;
Lacey, Jean M.
;
White, Amy L.
...
International Journal of Neonatal Screening. 6 (2020) 1 - p. 10 , 2020
Link:
https://doi.org/10.3390/..
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8
Novel truncating variant in KMT2E associated with cerebella..:
Abreu, Nicolas J.
;
Siemon, Amy E.
;
Baylis, Adriane L.
...
Clinical Case Reports. 10 (2022) 2 - p. , 2022
Link:
https://doi.org/10.1002/..
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9
Pathogenic variants in SMARCA5 , a chromatin remodeler, cau..:
Li, Dong
;
Wang, Qin
;
Gong, Naihua N
...
https://mediatum.ub.tum.de/1650351. , 2021
Link:
https://mediatum.ub.tum...
?
10
De novo variants in H3-3A and H3-3B are associated with neu..:
Okur, Volkan
;
Chen, Zefu
;
Vossaert, Liesbeth
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8651650/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
11
Pathogenic variants in SMARCA5, a chromatin remodeler, caus..:
Li, Dong
;
Wang, Qin
;
Gong, Naihua N
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115915/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
12
Incorporation of Second-Tier Biomarker Testing Improves the..:
Peck, Dawn S
;
Lacey, Jean M
;
White, Amy L
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422968/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
13
Novel truncating variant in KMT2E associated with cerebella..:
Abreu, Nicolas J
;
Siemon, Amy E
;
Baylis, Adriane L
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8832165/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
14
De novo variants in H3-3A and H3-3B are associated with neu..:
Volkan Okur
;
Zefu Chen
;
Liesbeth Vossaert
...
https://doi.org/10.1038/s41525-021-00268-8. , 2021
Link:
https://doi.org/10.1038/..
?
15
Incorporation of Second-Tier Biomarker Testing Improves the..:
Dawn S. Peck
;
Jean M. Lacey
;
Amy L. White
...
https://www.mdpi.com/2409-515X/6/1/10. , 2020
Link:
https://doi.org/10.3390/..
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