E-LIB Suche - Ergebnisse für: Spector, Elaine B.

1

Pathogenic variants inGCSHencoding the moonlighting H-prote..:

Arribas-Carreira, Laura ; Dallabona, Cristina ; Swanson, Michael A...
Human Molecular Genetics. 32 (2022) 6 - p. 917-933 , 2022

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

2

An LMNA synonymous variant associated with severe dilated c..:

Gao, Shanshan ; Mumme‐Monheit, Abigail ; Chen, Suet Nee...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 600-605 , 2021

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

3

Biomarkers of oxidative stress, inflammation, and vascular ..:

Van Hove, Johan L. K. ; Freehauf, Cynthia L. ; Ficicioglu, Can...
Journal of Inherited Metabolic Disease. 42 (2019) 3 - p. 424-437 , 2019

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

4

Comment on Late-Onset Nonketotic Hyperglycinemia With a Het..:

Coughlin II, Curtis R. ; Swanson, Michael A. ; Spector, Elaine B...
Pediatric Neurology. 79 (2018) - p. e1 , 2018

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

5

Venous thromboembolism laboratory testing (factor V Leiden ..:

Zhang, Shulin ; Taylor, Annette K. ; Huang, Xuan...
Genetics in Medicine. 20 (2018) 12 - p. 1489-1498 , 2018

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

6

Mild achondroplasia/hypochondroplasia with acanthosis nigri..:

Couser, Natario L. ; Pande, Chetna K. ; Turcott, Christie M....
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1097-1101 , 2017

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

7

Neurodevelopmental Outcome and Treatment Efficacy of Benzoa..:

Bjoraker, Kendra J. ; Swanson, Michael A. ; Coughlin II, Curtis R....
The Journal of Pediatrics. 170 (2016) - p. 234-239 , 2016

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

8

Mutations in the accessory subunitNDUFB10result in isolated..:

Friederich, Marisa W. ; Erdogan, Alican J. ; Coughlin II, Curtis R....
Human Molecular Genetics. , 2016

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

9

Biochemical and molecular predictors for prognosis in nonke..:

Swanson, Michael A. ; Coughlin Jr, Curtis R. ; Scharer, Gunter H....
Annals of Neurology. 78 (2015) 4 - p. 606-618 , 2015

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

10

ACMG Standards and Guidelines for fragile X testing: a revi..:

Monaghan, Kristin G. ; Lyon, Elaine ; Spector, Elaine B.
Genetics in Medicine. 15 (2013) 7 - p. 575-586 , 2013

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

11

Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset ..:

Pollard, Laura M. ; Williams, Nolan R. ; Espinoza, Lesby...
Journal of Child Neurology. 25 (2009) 8 - p. 954-960 , 2009

Link: https://doi.org/10.1177/..

12

Technical standards and guidelines for reproductive screeni..:

Monaghan, Kristin G. ; Feldman, Gerald L. ; Palomaki, Glenn E..
Genetics in Medicine. 10 (2008) 1 - p. 57-72 , 2008

Link: https://doi.org/10.1097/..

13

Clinical significance of tri-nucleotide repeats in Fragile ..:

Kronquist, Kathryn E. ; Sherman, Stephanie L. ; Spector, Elaine B.
Genetics in Medicine. 10 (2008) 11 - p. 845-847 , 2008

Link: https://doi.org/10.1097/..

14

A multicenter study of the frequency and distribution of GJ..:

Putcha, Girish V. ; Bejjani, Bassem A. ; Bleoo, Stacey...
Genetics in Medicine. 9 (2007) 7 - p. 413-426 , 2007

Link: https://doi.org/10.1097/..

15

Genetically Characterized Positive Control Cell Lines Deriv..:

Stenzel, Timothy T ; Goodman, Barbara K ; Cole, Eugene C...
Clinical Chemistry. 51 (2005) 11 - p. 2013-2024 , 2005

Link: https://doi.org/10.1373/..