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Mantcheva, Lili
6  results:
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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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

Characterization of a novel deep-intronic variant in DYNC2H..:

Buchh, Muqsit ; Gillespie, Patrick J ; Treat, Kayla...
10.1101/mcs.a006254.  , 2022
Link: https://hdl.handle.net/1..
 
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6

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/..
 
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