E-LIB Suche - Ergebnisse für: Engelhardt, Nicole

1

Homozygous CD320 in-frame deletion with superimposed matern..:

Engelhardt, Nicole ; Hoyle, Brittany ; Ng, Kim
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108218 , 2024

2

Coagulation abnormalities and vascular complications are co..:

Radenkovic, Silvia ; Bleukx, Sofie ; Engelhardt, Nicole...
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108530 , 2024

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

3

A review of provider experiences with newborn screening for..:

Williams, Kaylee ; Menello, Caitlin ; Henderson, Nadene D....
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107360 , 2023

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

4

MALATE DEHYDROGENASE DEFICIENCY: EXPANDING THE PHENOTYPIC S..:

Priestley, Jessica ; Pace, Lisa ; Engelhardt, Nicole...
Molecular Genetics and Metabolism. 135 (2022) 4 - p. 255 , 2022

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

5

Repression of Wnt/β-catenin signaling by SOX9 and Mastermin..:

Sinha, Abhishek ; Fan, Vinson B. ; Ramakrishnan, Aravinda-Bharathi...
Science Advances. 7 (2021) 8 - p. , 2021

Link: https://doi.org/10.1126/..

6

ALG8-CDG: new insights into an ultra-rare CDG:

Albokhari, Daniah ; Ng, Bobby ; Daniel, Earnest...
Molecular Genetics and Metabolism. 132 (2021) - p. S31-S32 , 2021

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

7

Comparison of psychosine analysis in dried blood spots and ..:

White, Amy ; Guenzel, Adam ; Turgeon, Coleman...
Molecular Genetics and Metabolism. 132 (2021) - p. S29-S30 , 2021

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

8

Identification of regulators of the Wnt signaling pathway u..:

Jack, Jessica ; Engelhardt, Nicole ; Kennell, Jennifer A.
The FASEB Journal. 24 (2010) S1 - p. , 2010

Link: https://doi.org/10.1096/..

9

Expanding Genetic Counselor Roles: A Model for Global Resea..:

Muraresku, Colleen C. ; McCormick, Elizabeth M. ; Rockart, Lydia...
Genes. 15 (2024) 7 - p. 867 , 2024

Link: https://doi.org/10.3390/..

10

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108509 , 2024

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

11

Malate dehydrogenase 2 deficiency is an emerging cause of p..:

Priestley, Jessica R.C. ; Pace, Lisa M. ; Sen, Kuntal...
Molecular Genetics and Metabolism Reports. 33 (2022) - p. 100931 , 2022

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

12

Newborn Screening for X-Linked Adrenoleukodystrophy: Review..:

Priestley, Jessica R. C. ; Adang, Laura A. ; Drewes Williams, Sarah...
International Journal of Neonatal Screening. 8 (2022) 2 - p. 24 , 2022

Link: https://doi.org/10.3390/..

13

ALG8‐CDG: Molecular and phenotypic expansion suggests clini..:

Albokhari, Daniah ; Ng, Bobby G. ; Guberinic, Alis...
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 969-980 , 2022

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

14

Expanding the phenotype, genotype and biochemical knowledge..:

Alsharhan, Hind ; Ng, Bobby G. ; Daniel, Earnest James Paul...
Journal of Inherited Metabolic Disease. 44 (2021) 4 - p. 987-1000 , 2021

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

15

Verlagsübergreifende PDA an einer wissenschaftlichen Spezia..:

Nix, Sebastian ; Engelhardt, Nicole
https://opus4.kobv.de/opus4-bib-info/frontdoor/index/index/docId/18688. , 2023

Link: https://opus4.kobv.de/op..