E-LIB Suche - Ergebnisse für: Haaxma, Charlotte A.

1

Mutations in Genes Encoding Subunits of the RNA Exosome as ..:

Wijnsma, Kioa L. ; Schijvens, Anne M. ; Bouwmeester, Romy N....
International Journal of Molecular Sciences. 25 (2024) 14 - p. 7604 , 2024

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

2

Oral sialic acid supplementation inNANS‐CDG: Results of a s..:

den Hollander, Bibiche ; Brands, Marion M. ; de Boer, Lonneke...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 956-971 , 2023

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

3

Diagnosing, discarding, or de-VUSsing: A practical guide to..:

Ferreira, Elise A. ; Veenvliet, Annemarijne R.J. ; Engelke, Udo F.H....
Genetics in Medicine. 25 (2023) 1 - p. 125-134 , 2023

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

4

Targeting the Diagnosis in an Adolescent with Epilepsy and ..:

Tseng, Laura A ; Engelke, Udo F H ; Huigen, Marleen C D G...
Clinical Chemistry. 68 (2022) 5 - p. 732-735 , 2022

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

5

Adult GAMT deficiency: A literature review and report of tw..:

Modi, Bhavi P. ; Khan, Haq Nawaz ; van der Lee, Robin...
Molecular Genetics and Metabolism Reports. 27 (2021) - p. 100761 , 2021

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

6

NANS-CDG: Delineation of the Genetic, Biochemical, and Clin..:

den Hollander, Bibiche ; Rasing, Anne ; Post, Merel A....
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

Genotype–phenotype correlations and novel molecular insight..:

Mannucci, Ilaria ; Dang, Nghi D. P. ; Huber, Hannes...
Genome Medicine. 13 (2021) 1 - p. , 2021

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

8

Variants in NGLY1 lead to intellectual disability, myoclonu..:

Panneman, Daan M. ; Wortmann, Saskia B. ; Haaxma, Charlotte A....
Clinical Genetics. 97 (2020) 4 - p. 556-566 , 2020

Link: https://doi.org/10.1111/..

9

Biallelic variants in the RNA exosome gene EXOSC5 are assoc..:

Slavotinek, Anne ; Misceo, Doriana ; Htun, Stephanie...
Human Molecular Genetics. 29 (2020) 13 - p. 2218-2239 , 2020

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

10

PLPHP deficiency: clinical, genetic, biochemical, and mecha..:

Johnstone, Devon L ; Al-Shekaili, Hilal H ; Tarailo-Graovac, Maja...
Brain. 142 (2019) 3 - p. 542-559 , 2019

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

11

Recessive mutations in ATP8A2 cause severe hypotonia, cogni..:

McMillan, Hugh J. ; Telegrafi, Aida ; Singleton, Amanda...
Orphanet Journal of Rare Diseases. 13 (2018) 1 - p. , 2018

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

12

Ataxia-telangiectasia: Immunodeficiency and survival:

van Os, Nienke J.H. ; Jansen, Anne F.M. ; van Deuren, Marcel...
Clinical Immunology. 178 (2017) - p. 45-55 , 2017

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

13

Phenytoin as a last‐resort treatment in SCN8A encephalopath:

Braakman, Hilde M. ; Verhoeven, Judith S. ; Erasmus, Corrie E....
Epilepsia Open. 2 (2017) 3 - p. 343-344 , 2017

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

14

Ataxia‐telangiectasia: recommendations for multidisciplinar..:

van Os, Nienke J H ; Haaxma, Charlotte A ; van der Flier, Michiel...
Developmental Medicine & Child Neurology. 59 (2017) 7 - p. 680-689 , 2017

Link: https://doi.org/10.1111/..

15

Pathogenic mechanism of recurrent mutations of SCN8A in epi..:

Wagnon, Jacy L. ; Barker, Bryan S. ; Hounshell, James A....
Annals of Clinical and Translational Neurology. 3 (2015) 2 - p. 114-123 , 2015

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