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Jobling, Rebekah
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1

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics.  111 (2024)  5 - p. 996 , 2024
Link: https://doi.org/10.1016/..
 
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P228: Molecular and clinical analyses of LRP1 and LRP2 vari..:

Chen, Xin ; Ding, Qiliang ; Manshaei, Roozbeh...
Genetics in Medicine Open.  2 (2024)  - p. 101125 , 2024
Link: https://doi.org/10.1016/..
 
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3

Genetics providers' perspectives on the use of digital tool..:

Lee, Whiwon ; Hirjikaka, Daena ; Grewal, Sonya...
Genetics in Medicine.  26 (2024)  6 - p. 101122 , 2024
Link: https://doi.org/10.1016/..
 
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P169: Characterizing the phenotypic spectrum and estimated ..:

Moran, Olivia ; Somerville, Cherith ; Reuter, Miriam...
Genetics in Medicine Open.  2 (2024)  - p. 101066 , 2024
Link: https://doi.org/10.1016/..
 
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5

O07: Haploinsufficiency of EIF3A and EIF3B cause a clinical..:

Somerville, Cherith ; Erkut, Ersa ; Schwartz, Marci...
Genetics in Medicine Open.  2 (2024)  - p. 101469 , 2024
Link: https://doi.org/10.1016/..
 
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6

P218: SMAD6 variants in congenital heart disease:

Schwartz, Marci ; Moran, Olivia ; Chen, Xin...
Genetics in Medicine Open.  2 (2024)  - p. 101115 , 2024
Link: https://doi.org/10.1016/..
 
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7

P474: Precision child health: Integrating a consultative ph..:

Cohn, Iris ; Moran, Olivia ; Stanley, Kaitlin...
Genetics in Medicine Open.  2 (2024)  - p. 101373 , 2024
Link: https://doi.org/10.1016/..
 
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8

P342: Loss of function variants in ACTN2 in pediatric patie..:

Zahavich, Laura ; MacPherson, Samantha ; Jeewa, Aamir.
Genetics in Medicine Open.  2 (2024)  - p. 101236 , 2024
Link: https://doi.org/10.1016/..
 
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9

Rare de novo gain-of-function missense variants in DOT1L ar..:

Nil, Zelha ; Deshwar, Ashish R. ; Huang, Yan...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1919-1937 , 2023
Link: https://doi.org/10.1016/..
 
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10

Monoallelic loss-of-function BMP2 variants result in BMP2-r..:

Priestley, Jessica R.C. ; Deshwar, Ashish R. ; Murthy, Harsha...
Genetics in Medicine.  25 (2023)  8 - p. 100863 , 2023
Link: https://doi.org/10.1016/..
 
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11

Finding the sweet spot: a qualitative study exploring patie..:

Luca, Stephanie ; Clausen, Marc ; Shaw, Angela...
Human Genetics.  142 (2023)  3 - p. 321-330 , 2023
Link: https://doi.org/10.1007/..
 
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12

Trio genome sequencing for developmental delay and pediatri..:

Jegathisawaran, Jathishinie ; Tsiplova, Kate ; Hayeems, Robin Z....
Genetics in Medicine.  24 (2022)  5 - p. 1027-1036 , 2022
Link: https://doi.org/10.1016/..
 
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13

Bridging clinical care and research in Ontario, Canada: Max..:

Hartley, Taila ; Soubry, Élisabeth ; Acker, Meryl...
Clinical Genetics.  103 (2022)  3 - p. 288-300 , 2022
Link: https://doi.org/10.1111/..
 
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14

EEF1A2 pathogenic variant presenting in an infant with fail..:

Vogt, Lindsey M. ; Lorenzo, Melissa ; B. Prendergast, D'Arcy..
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3106-3109 , 2022
Link: https://doi.org/10.1002/..
 
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15

NeurodegenerativeVPS41variants inhibit HOPS function and mT..:

van der Welle, Reini E N ; Jobling, Rebekah ; Burns, Christian...
EMBO Molecular Medicine.  13 (2021)  5 - p. , 2021
Link: https://doi.org/10.15252..
 
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