E-LIB Suche - Ergebnisse für: Meyn, Stephen

1

P606: Finding answers for clinical exome-negative patients:..:

Meyn, Stephen ; Webb, Bryn ; Pavelek, Derek...
Genetics in Medicine Open. 2 (2024) - p. 101512 , 2024

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

2

P769: Trio-whole exome and whole genome sequencing in fetal..:

Gershon, Ariel ; Anandampillai, Tanvi ; Arshad, Maahil...
Genetics in Medicine Open. 2 (2024) - p. 101677 , 2024

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

3

Experience of the first adult-focussed undiagnosed disease ..:

Wallis, Mathew ; Bodek, Simon D. ; Munro, Jacob...
Orphanet Journal of Rare Diseases. 19 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..

4

P521: Application of long read whole genome sequencing to e..:

Nguyen, Hieu ; Frater-Rubsam, Leah ; Hall, April..
Genetics in Medicine Open. 1 (2023) 1 - p. 100568 , 2023

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

5

eP431: Applying the clinician-reported genetic testing util..:

Hurst, Anna ; Luca, Stephanie ; Cochran, Meagan...
Genetics in Medicine. 24 (2022) 3 - p. S269-S270 , 2022

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

6

The point-of-care use of a facial phenotyping tool in the g..:

Marwaha, Ashish ; Chitayat, David ; Mendoza, Roberto..
Molecular Genetics and Metabolism. 132 (2021) - p. S103 , 2021

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

7

Truncating SRCAP variants outside the Floating-Harbor syndr..:

Rots, Dmitrijs ; Chater-Diehl, Eric ; Dingemans, Alexander J.M....
The American Journal of Human Genetics. 108 (2021) 6 - p. 1053-1068 , 2021

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

8

Northern lights assay: a versatile method for comprehensive..:

Gudmundsson, Bjarki ; Thormar, Hans G ; Sigurdsson, Albert...
Nucleic Acids Research. , 2018

Link: https://doi.org/10.1093/..

9

THE ROLE OF WHOLE GENOME SEQUENCING AS A DIAGNOSTIC TOOL FO..:

Marano, Maria ; Orkin, Julia ; Hayeems, Robin...
Paediatrics & Child Health. 23 (2018) suppl_1 - p. e30-e30 , 2018

Link: https://doi.org/10.1093/..

10

PDTM-21. LARGE SCALE TUMOR MUTATIONAL BURDEN ANALYSIS OF PE..:

Campbell, Brittany B ; Angelini, Paola ; Light, Nicholas...
Neuro-Oncology. 19 (2017) suppl_6 - p. vi194-vi194 , 2017

Link: https://doi.org/10.1093/..

11

Diagnostic practices and disease surveillance in Canadian c..:

Amin, Reshma ; Moraes, Theo J ; Skitch, Amy...
Canadian Respiratory Journal. 20 (2013) 3 - p. 165-170 , 2013

Link: https://doi.org/10.1155/..

12

Combined De-Novo Mutation and Non-Random X-Chromosome Inact..:

Boonyawat, Boonchai ; Dhanraj, Santhosh ; al Abbas, Fahad...
Journal of Clinical Immunology. 33 (2013) 7 - p. 1150-1155 , 2013

Link: https://doi.org/10.1007/..

13

Molecular characterization of deletion breakpoints in adult..:

Weksberg, Rosanna ; Stachon, Andrea C. ; Squire, Jeremy A....
Human Genetics. 120 (2006) 6 - p. 837-845 , 2006

Link: https://doi.org/10.1007/..

14

Identification of Domains of Ataxia-telangiectasia Mutated ..:

Young, David B. ; Jonnalagadda, Jyoti ; Gatei, Magtouf...
Journal of Biological Chemistry. 280 (2005) 30 - p. 27587-27594 , 2005

Link: https://doi.org/10.1074/..

15

Detecting rearrangements in children using subtelomeric FIS..:

Clarkson, Blaise ; Pavenski, Katerina ; Dupuis, Lucie...
American Journal of Medical Genetics. 107 (2002) 4 - p. 267-274 , 2002

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