E-LIB Suche - Ergebnisse für: Treat, Kayla

1

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/..

2

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/..

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

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

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

Reanalysis of a novel variant in the IGF1R gene in a family..:

Jacobs, Annalise ; Burns, Catherine ; Patel, Purva...
10.1101/mcs.a006170. , 2022

Link: https://hdl.handle.net/1..