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Kayla Treat
22
results:
Search for persons
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Format
Online (22)
Mediatypes
Articles (Online) (15)
OpenAccess-fulltext (7)
Sorted by: Relevance
Sorted by: Year
?
1
P535: The undiagnosed rare disease clinic program of Indian..:
Liaqat, Khurram
;
Vetrini, Francesco
;
Conboy, Erin
...
Genetics in Medicine Open. 2 (2024) - p. 101434 , 2024
Link:
https://doi.org/10.1016/..
?
2
P322: Case report: A splice site variant in COL4A6 may caus..:
Liaqat, Khurram
;
Vetrini, Francesco
;
Conboy, Erin
..
Genetics in Medicine Open. 2 (2024) - p. 101216 , 2024
Link:
https://doi.org/10.1016/..
?
3
Undiagnosed rare disease clinic identifies a novel UBE3A va..:
Bruns, Rebecca
;
Liaqat, Khurram
;
Nasir, Abdul
...
Congenital Anomalies. 64 (2024) 3 - p. 155-160 , 2024
Link:
https://doi.org/10.1111/..
?
4
P588: De novo and inherited variants in DDX39B cause a nove..:
Booth, Kevin
;
Jangam, Sharayu
;
Man Chun Chui, Martin
...
Genetics in Medicine Open. 2 (2024) - p. 101494 , 2024
Link:
https://doi.org/10.1016/..
?
5
Further evidence of involvement of ITSN1 in autosomal domin..:
Liaqat, Khurram
;
Treat, Kayla
;
Wilson, Theodore E.
..
Clinical Genetics. 105 (2024) 4 - p. 455-456 , 2024
Link:
https://doi.org/10.1111/..
?
6
A case of MBTPS1‐related disorder due to compound heterozyg..:
Liaqat, Khurram
;
Treat, Kayla
;
Mantcheva, Lili
...
American Journal of Medical Genetics Part A. 194 (2023) 5 - p. , 2023
Link:
https://doi.org/10.1002/..
?
7
P433: A novel deep intronic variant in DYNC2H1 characterize..:
Buchh, Muqsit
;
Gillespie, Patrick
;
Treat, Kayla
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100480 , 2023
Link:
https://doi.org/10.1016/..
?
8
P237: A de novo gain-of-function ANO5 variant in a patient ..:
Ly, Reynold
;
Treat, Kayla
;
Graham, Brett
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100265 , 2023
Link:
https://doi.org/10.1016/..
?
9
Macrocephaly and developmental delay caused by missense var..:
Koop, Klaas
;
Yuan, Weimin
;
Tessadori, Federico
...
Human Molecular Genetics. 32 (2023) 21 - p. 3063-3077 , 2023
Link:
https://doi.org/10.1093/..
?
10
eP271: Bi-allelic loss of function variant of the ACTG2 gen..:
Walters, James
;
Treat, Kayla
;
Conboy, Erin
.
Genetics in Medicine. 24 (2022) 3 - p. S171 , 2022
Link:
https://doi.org/10.1016/..
?
11
eP410: De novo missense variants in DDX39B cause a novel sy..:
Treat, Kayla
;
Jangam, Sharayu
;
Yamamoto, Shinya
...
Genetics in Medicine. 24 (2022) 3 - p. S257-S258 , 2022
Link:
https://doi.org/10.1016/..
?
12
Assessing parental understanding of variant reclassificatio..:
Margolin, Amy
;
Helm, Benjamin M.
;
Treat, Kayla
..
Journal of Community Genetics. 12 (2021) 4 - p. 663-670 , 2021
Link:
https://doi.org/10.1007/..
?
13
EVEN‐PLUS syndrome: A case report with novel variants in HS..:
Younger, Georgianne
;
Vetrini, Francesco
;
Weaver, David D.
...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2501-2507 , 2020
Link:
https://doi.org/10.1002/..
?
14
Phenotype delineation of ZNF462 related syndrome:
Kruszka, Paul
;
Hu, Tommy
;
Hong, Sungkook
...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2075-2082 , 2019
Link:
https://doi.org/10.1002/..
?
15
P433: A novel deep intronic variant in DYNC2H1 characterize..:
Muqsit Buchh
;
Patrick Gillespie
;
Kayla Treat
...
http://www.sciencedirect.com/science/article/pii/S2949774423004806. , 2023
Link:
https://doi.org/10.1016/..
1-15