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Farach, Laura Schoch
43
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Online (43)
Mediatypes
Articles (Online) (40)
Bookchapter (Online) (1)
OpenAccess-fulltext (2)
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1
Two new reported cases of 16q22.3q23.3 duplication syndrome..:
Gunther, Kathryn
;
Mowrey, Kate
;
Farach, Laura Schoch
Clinical Case Reports. 9 (2021) 3 - p. 1629-1633 , 2021
Link:
https://doi.org/10.1002/..
?
2
Two new reported cases of 16q22.3q23.3 duplication syndrome..:
Gunther, Kathryn
;
Mowrey, Kate
;
Farach, Laura Schoch
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981733/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
3
Two new reported cases of 16q22.3q23.3 duplication syndrome..:
Kathryn Gunther
;
Kate Mowrey
;
Laura Schoch Farach
https://doi.org/10.1002/ccr3.3862. , 2021
Link:
https://doi.org/10.1002/..
?
4
Common epilepsy variants from the general population are no..:
Richard, Melissa A.
;
Lupo, Philip J.
;
Ehli, Erik A.
...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024
Link:
https://doi.org/10.1002/..
?
5
Drug Resistant Epilepsy in Tuberous Sclerosis Complex is As..:
Farach, Laura S.
;
Richard, Melissa A.
;
Wulsin, Aynara C.
...
Pediatric Neurology. , 2024
Link:
https://doi.org/10.1016/..
?
6
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal..:
West, Hannah D.
;
Nellist, Mark
;
Brouwer, Rutger W. W.
...
Human Mutation. 2023 (2023) - p. 1-18 , 2023
Link:
https://doi.org/10.1155/..
?
7
Mild TSC phenotype and non-penetrance associated with a fra..:
Farach, Laura S.
;
Northrup, Hope
;
Nellist, Mark
...
Gene. 877 (2023) - p. 147566 , 2023
Link:
https://doi.org/10.1016/..
?
8
Arginase deficiency masked by cerebral palsy and coagulopat..:
Mills, Shelby L.
;
Roberts, Paige
;
Ashfaq, Myla
...
JIMD Reports. 64 (2023) 6 - p. 434-439 , 2023
Link:
https://doi.org/10.1002/..
?
9
Massive macroglossia, a rare side effect of COVID-19: clini..:
Mañón, Victoria A.
;
Chubb, David
;
Farach, Laura S.
...
Oral and Maxillofacial Surgery. 26 (2022) 4 - p. 613-618 , 2022
Link:
https://doi.org/10.1007/..
?
10
Assessing patient attitudes toward genetic testing for here..:
Johnson, Addison Q.
;
Bannon, Sarah A.
;
Farach, Laura S.
...
European Journal of Haematology. 110 (2022) 1 - p. 109-116 , 2022
Link:
https://doi.org/10.1111/..
?
11
Case Report: Novel pathogenic variant in NFIX in two sister..:
Langley, Elizabeth
;
Farach, Laura S.
;
Mowrey, Kate
Frontiers in Genetics. 13 (2022) - p. , 2022
Link:
https://doi.org/10.3389/..
?
12
NEXMIF pathogenic variants in individuals of Korean, Vietna..:
Langley, Elizabeth
;
Farach, Laura S.
;
Koenig, Mary K.
...
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1688-1692 , 2022
Link:
https://doi.org/10.1002/..
?
13
De novo and inherited variants in ZNF292 underlie a neurode..:
Mirzaa, Ghayda M.
;
Chong, Jessica X.
;
Piton, Amélie
...
Genetics in Medicine. 22 (2020) 3 - p. 538-546 , 2020
Link:
https://doi.org/10.1038/..
?
14
Exploring the predicted yield of prenatal testing by evalua..:
Nunley, Peyton B.
;
Hashmi, Syed S.
;
Johnson, Anthony
...
Prenatal Diagnosis. 41 (2020) 3 - p. 354-361 , 2020
Link:
https://doi.org/10.1002/..
?
15
The first reported case of Loeys‐Dietz syndrome in a patien..:
Baskin, Stephanie M.
;
Morris, Shaine A.
;
Vara, Autumn
..
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2755-2760 , 2020
Link:
https://doi.org/10.1002/..
1-15