E-LIB Suche - Ergebnisse für: Kernohan, Kristin D

1

The expanding diagnostic toolbox for rare genetic diseases:

Kernohan, Kristin D. ; Boycott, Kym M.
Nature Reviews Genetics. , 2024

Link: https://doi.org/10.1038/..

2

Next generation sequencing reveals novel compound heterozyg..:

Marshall, Aren E. ; Brady, Lauren ; Yeh, Ed...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

Link: https://doi.org/10.1002/..

3

O36: Long-read genome sequencing in unsolved rare genetic d..:

Del Gobbo, Giulia ; Couse, Madeline ; Lambert, Christine...
Genetics in Medicine Open. 2 (2024) - p. 101474 , 2024

Link: https://doi.org/10.1016/..

4

Congenital tremor and myopathy secondary to novel MYBPC1 va..:

Leduc-Pessah, Heather ; Smith, Ian C. ; Kernohan, Kristin D....
Journal of the Neurological Sciences. 457 (2024) - p. 122864 , 2024

Link: https://doi.org/10.1016/..

5

82 Newborn Screening for Severe Combined Immune Deficiency:..:

Mudilage, Mithili ; Kalashnikova, Tatiana ; Muranyi, Andrew...
Clinical Immunology. 262 (2024) - p. 110024 , 2024

Link: https://doi.org/10.1016/..

6

P580: Care4Rare Canada: Application of a multi-omics protoc..:

Soubry, Elisabeth ; Hartley, Taila ; Ackers, Meryl...
Genetics in Medicine Open. 2 (2024) - p. 101486 , 2024

Link: https://doi.org/10.1016/..

7

P605: RNA sequencing as a second-line test for rare disease:

Marshall, Aren ; Del Gobbo, Giulia ; Liang, Yijing...
Genetics in Medicine Open. 2 (2024) - p. 101511 , 2024

Link: https://doi.org/10.1016/..

8

P619: Three years of newborn screening for MPS1 in Ontario:..:

Lacaria, Melanie ; Henderson, Matthew ; Yeh, Ed...
Genetics in Medicine Open. 2 (2024) - p. 101525 , 2024

Link: https://doi.org/10.1016/..

9

RNA sequencing to support intronic variant interpretation: ..:

Bhola, Priya T. ; Marshall, Aren E. ; Liang, Yijing...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1664-1668 , 2023

Link: https://doi.org/10.1002/..

10

Phenotypic heterogeneity associated with KIF21A: Two new ca..:

Bhola, Priya T. ; Mishra, Radha ; Posey, Jennifer E....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

Link: https://doi.org/10.1002/..

11

RNA sequencing reveals deep intronic CEP120 variant: A repo..:

Marshall, Aren E. ; Lemire, Gabrielle ; Liang, Yijing...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

Link: https://doi.org/10.1002/..

12

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/..

13

P509: Resolution of variants of uncertain significance by R..:

Marshall, Aren ; Del Gobbo, Giulia ; Liang, Yijing...
Genetics in Medicine Open. 1 (2023) 1 - p. 100556 , 2023

Link: https://doi.org/10.1016/..

14

RNA sequencing resolves novel DYNC2H1 variants causing shor..:

Marshall, Aren E. ; MacDonald, Stella K. ; Liang, Yijing...
Molecular Genetics & Genomic Medicine. 11 (2023) 10 - p. , 2023

Link: https://doi.org/10.1002/..

15

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

Link: https://doi.org/10.1016/..