Suchergebnisse - "Haven, Jaclyn"

PubPharm (9)

1

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

enthalten in: Journal of inherited metabolic disease | 2020

von Park, J. | Mealer, R. | Elias, A. | +13

2

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

enthalten in: Journal of inherited metabolic disease | 2020

von Friederich, M. | Elias, A. | Kuster, A. | +18

3

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

enthalten in: Journal of Inherited Metabolic Disease | 2020

von Friederich, M. | Elias, A. | Kuster, A. | +18

4

N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

enthalten in: Journal of Inherited Metabolic Disease | 2020

von Park, J. | Mealer, R. | Elias, A. | +13

5

SLC35A2-CDG : Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

enthalten in: Human mutation | 2019

von Ng, B. | Sosicka, P. | Agadi, S. | +66

6

SLC35A2‐CDG : Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

enthalten in: Human mutation | 2019

von Ng, B. | Sosicka, P. | Agadi, S. | +66

7

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

enthalten in: Genome medicine | 2016

von Stevens, S. | van Essen, A. | van Ravenswaaij, C. | +10

8

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

enthalten in: Genome medicine | 2016

von Stevens, S. | van Essen, A. | van Ravenswaaij, C. | +10

9

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

enthalten in: Genome medicine | 2016

von Stevens, S. | van Essen, A. | van Ravenswaaij, C. | +10

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