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Guerin, Andrea
322  results:
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1

P656: Improved diagnostic paradigm using optical genome map..:

Crocker, Susan ; Guerin, Andrea ; Wong, Henry...
Genetics in Medicine Open.  2 (2024)  - p. 101561 , 2024
Link: https://doi.org/10.1016/..
 
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2

P860: A health systems framework to advance equity in medic..:

Aden, Muna ; Bell, Kathleen ; Guerin, Andrea.
Genetics in Medicine Open.  2 (2024)  - p. 101774 , 2024
Link: https://doi.org/10.1016/..
 
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3

P541: Development of a provincial genetics program in Ontar..:

Bell, Kathleen ; Kim, Raymond ; Pollett, Aaron...
Genetics in Medicine Open.  2 (2024)  - p. 101440 , 2024
Link: https://doi.org/10.1016/..
 
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4

P518: The impact of mainstreaming general genetic testing o..:

Guerin, Andrea ; Dinchong, Rachelle ; Guy, Melanie..
Genetics in Medicine Open.  2 (2024)  - p. 101417 , 2024
Link: https://doi.org/10.1016/..
 
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5

A homozygous POLR1A variant causes leukodystrophy and affec..:

Misceo, Doriana ; Lirussi, Lisa ; Strømme, Petter...
Brain.  146 (2023)  8 - p. 3513-3527 , 2023
Link: https://doi.org/10.1093/..
 
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6

Molecular characterization of 13 patients with PIK3CA‐relat..:

de Kock, Leanne ; Cuillerier, Alexanne ; Gillespie, Meredith...
American Journal of Medical Genetics Part A.  194 (2023)  3 - p. , 2023
Link: https://doi.org/10.1002/..
 
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7

Scope of coverage of medical genetics and genomics in pre‐c..:

Ouellet, Jade ; Lapointe, Julie ; Raîche, Camille...
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 13-21 , 2022
Link: https://doi.org/10.1002/..
 
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8

Prenatal phenotype analysis and mutation identification of ..:

Moreno-Leon, Laura ; Quezada-Ramirez, Marco A. ; Bilsbury, Evan...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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9

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain.  145 (2022)  9 - p. 3308-3327 , 2022
Link: https://doi.org/10.1093/..
 
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10

Novel FGF9 variant contributes to multiple synostoses syndr..:

Dobson, Stephanie M. ; Kiss, Courtney ; Borschneck, Daniel...
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2162-2167 , 2022
Link: https://doi.org/10.1002/..
 
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11

Liver transplantation for Gaucher disease presenting as neo..:

Soudek, Lucy ; Siddiqui, Iram ; Guerin, Andrea...
Pediatric Transplantation.  24 (2020)  4 - p. , 2020
Link: https://doi.org/10.1111/..
 
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12

Early infantile epileptic encephalopathy due to biallelic p..:

Johnstone, Devon L. ; Nguyen, Thi Tuyet Mai ; Zambonin, Jessica...
Journal of Inherited Metabolic Disease.  43 (2020)  6 - p. 1321-1332 , 2020
Link: https://doi.org/10.1002/..
 
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13

Bilateral severe microphthalmia in a neonate with trisomy 8..:

Sanderson, Bevan ; Leach, Courtney ; Zein, Mike...
American Journal of Medical Genetics Part A.  185 (2020)  2 - p. 534-538 , 2020
Link: https://doi.org/10.1002/..
 
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14

Missense variant contribution to USP9X-female syndrome:

Jolly, Lachlan A. ; Parnell, Euan ; Gardner, Alison E....
npj Genomic Medicine.  5 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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15

Exome sequencing identifies de novo splicing variant in XRC..:

Sjaarda, Calvin P. ; Wood, Shalandra ; McNaughton, Amy J. M....
Journal of Human Genetics.  65 (2019)  3 - p. 287-296 , 2019
Link: https://doi.org/10.1038/..
 
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