E-LIB Suche - Ergebnisse für: Fernandez, Bridget A.

1

Molecular testing in autism spectrum disorder:

, In: Diagnostic Molecular Pathology,

Fernandez, Bridget A. ; Marshall, Christian R. ; Vorstman, Jacob A.S.. - p. 291-301 , 2024

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

2

List of contributors:

, In: Diagnostic Molecular Pathology,

Allison, Kimberly H. ; Allyse, Megan A. ; B. Smolkin, Matthew... - p. xiii-xvi , 2024

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

3

Genome-wide rare variant score associates with morphologica..:

Chan, Ada J. S. ; Engchuan, Worrawat ; Reuter, Miriam S....
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

Segregating patterns of copy number variations in extended ..:

Woodbury‐Smith, Marc ; Zarrei, Mehdi ; Wei, John...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183 (2020) 5 - p. 268-276 , 2020

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

5

Cardiac arrest in a mother and daughter and the identificat..:

Tung, Matthew ; Van Petegem, Filip ; Lauson, Samantha...
Molecular Genetics & Genomic Medicine. 8 (2020) 4 - p. , 2020

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

6

Genome-wide detection of tandem DNA repeats that are expand..:

Trost, Brett ; Engchuan, Worrawat ; Nguyen, Charlotte M....
Nature. 586 (2020) 7827 - p. 80-86 , 2020

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

7

A novel pathogenic missense ADAMTS17 variant that impairs s..:

Evans, Daniel R. ; Green, Jane S. ; Fahiminiya, Somayyeh...
Scientific Reports. 10 (2020) 1 - p. , 2020

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

8

Novel Usher syndrome pathogenic variants identified in case..:

Pater, Justin A. ; Green, Jane ; O'Rielly, Darren D....
BMC Medical Genetics. 20 (2019) 1 - p. , 2019

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

9

Familial Intracranial Aneurysm in Newfoundland: Clinical an..:

Powell, Amy E. ; Fernandez, Bridget A. ; Maroun, Falah..
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46 (2019) 5 - p. 518-526 , 2019

Link: https://doi.org/10.1017/..

10

A genome-wide linkage study of autism spectrum disorder and..:

Woodbury-Smith, Marc ; Paterson, Andrew D. ; O'Connor, Irene...
Journal of Neurodevelopmental Disorders. 10 (2018) 1 - p. , 2018

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

11

Syndromic autism spectrum disorders: moving from a clinical..:

Fernandez, Bridget A. ; Scherer, Stephen W.
Dialogues in Clinical Neuroscience. 19 (2017) 4 - p. 353-371 , 2017

Link: https://doi.org/10.31887..

12

Lethal Disorder of Mitochondrial Fission Caused by Mutation..:

Yoon, Grace ; Malam, Zeenat ; Paton, Tara...
The Journal of Pediatrics. 171 (2016) - p. 313-316.e2 , 2016

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

13

The Clinical Application of Genome-Wide Sequencing for Mono..:

Boycott, Kym ; Hartley, Taila ; Adam, Shelin...
Journal of Medical Genetics, 431-437, August 2015. , 2015

Link: https://ssrn.com/abstrac..

14

ISDN2014_0253: High resolution genomic analyses of a clinic..:

Tammimies, Kristiina ; Fernandez, Bridget A. ; Walker, Susan...
International Journal of Developmental Neuroscience. 47 (2015) Part_A - p. 76-76 , 2015

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

15

Using extended pedigrees to identify novel autism spectrum ..:

Woodbury-Smith, Marc ; Paterson, Andrew D. ; Thiruvahindrapduram, Bhooma...
Human Genetics. 134 (2014) 2 - p. 191-201 , 2014

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