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Macklin-Mantia, Sarah K.
24
results:
Search for persons
X
Format
Online (24)
Mediatypes
Articles (Online) (10)
OpenAccess-fulltext (14)
Languages
english (21)
spanish (1)
Sorted by: Relevance
Sorted by: Year
?
1
Bi-allelic variants in HMGCR cause an autosomal-recessive p..:
Morales-Rosado, Joel A.
;
Schwab, Tanya L.
;
Macklin-Mantia, Sarah K.
...
The American Journal of Human Genetics. 110 (2023) 6 - p. 989-997 , 2023
Link:
https://doi.org/10.1016/..
?
2
An American patient with polyposis carrying a Scandinavian ..:
Macklin-Mantia, Sarah K.
;
Riegert-Johnson, Douglas L.
Hereditary Cancer in Clinical Practice. 18 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
3
Retrospective review of outcomes in patients with DNA-damag..:
Macklin-Mantia, Sarah K.
;
Hines, Stephanie L.
;
Kasi, Pashtoon M.
Hereditary Cancer in Clinical Practice. 18 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
4
Bi-allelic variants in HMGCR cause an autosomal-recessive p..:
Morales-Rosado, Joel A
;
Schwab, Tanya L
;
Macklin-Mantia, Sarah K
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10257193/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
5
Case report expanding the germline AXIN2- related phenotype..:
Macklin- Mantia, Sarah K.
;
Hines, Stephanie L.
;
Chaichana, Kaisorn L.
...
BMC Medical Genetics. 21 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
6
An American patient with polyposis carrying a Scandinavian ..:
Macklin-Mantia, Sarah K
;
Riegert-Johnson, Douglas L
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7391027/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
7
Retrospective review of outcomes in patients with DNA-damag..:
Macklin-Mantia, Sarah K
;
Hines, Stephanie L
;
Kasi, Pashtoon M
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419180/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
8
Physician-directed genetic screening to evaluate personal r..:
Haverfield, Eden V.
;
Esplin, Edward D.
;
Aguilar, Sienna J.
...
BMC Medicine. 19 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
9
Correction to: Physician-directed genetic screening to eval..:
Haverfield, Eden V.
;
Esplin, Edward D.
;
Aguilar, Sienna J.
...
BMC Medicine. 19 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/..
?
10
Case report expanding the germline AXIN2- related phenotype..:
Macklin- Mantia, Sarah K
;
Hines, Stephanie L
;
Chaichana, Kaisorn L
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433097/. , 2020
Link:
http://www.ncbi.nlm.nih...
?
11
Correction to: Physician-directed genetic screening to eval..:
Haverfield, Eden V
;
Esplin, Edward D
;
Aguilar, Sienna J
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8567716/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
12
Physician-directed genetic screening to evaluate personal r..:
Haverfield, Eden V
;
Esplin, Edward D
;
Aguilar, Sienna J
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8371767/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
13
Retrospective review of outcomes in patients with DNA-damag..:
Sarah K. Macklin-Mantia
;
Stephanie L. Hines
;
Pashtoon M. Kasi
http://link.springer.com/article/10.1186/s13053-020-00148-9. , 2020
Link:
https://doi.org/10.1186/..
?
14
Case report expanding the germline AXIN2- related phenotype..:
Sarah K. Macklin- Mantia
;
Stephanie L. Hines
;
Kaisorn L. Chaichana
...
http://link.springer.com/article/10.1186/s12881-020-01103-0. , 2020
Link:
https://doi.org/10.1186/..
?
15
An American patient with polyposis carrying a Scandinavian ..:
Sarah K. Macklin-Mantia
;
Douglas L. Riegert-Johnson
http://link.springer.com/article/10.1186/s13053-020-00149-8. , 2020
Link:
https://doi.org/10.1186/..
1-15