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Engelhardt, Nicole
128
results:
Search for persons
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Format
Online (126)
Print (2)
Mediatypes
Books (2)
Articles (Online) (45)
Bookchapter (Online) (2)
OpenAccess-fulltext (79)
Languages
german (7)
english (111)
Sorted by: Relevance
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?
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
Link:
https://doi.org/10.1016/..
?
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
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/..
?
7
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/..
?
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
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/..
?
12
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/..
?
13
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/..
?
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..
1-15
Related subjects
Spezielle Krankenpflege, Lehrbücher, Ausbildung in einzelnen Fächern. Anatomie, Physiologie