E-LIB Suche - Ergebnisse für: Matthijs, Gert

1

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell. 187 (2024) 14 - p. 3585-3601.e22 , 2024

2

Natural history of three late-diagnosed classic Galactosemi..:

Quelhas, Dulce ; Kingma, Sandra D.K. ; Jonckheere, An I....
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101057 , 2024

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

3

A pseudoautosomal glycosylation disorder prompts the revisi..:

Wilson, Matthew P. ; Kentache, Takfarinas ; Althoff, Charlotte R....
Cell. 187 (2024) 14 - p. 3784 , 2024

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

4

Exploring attitudes and experiences with reproductive genet..:

Van Steijvoort, Eva ; Cassou, Mathilde ; De Schutter, Camille...
Journal of Assisted Reproduction and Genetics. 41 (2024) 2 - p. 451-464 , 2024

Link: https://doi.org/10.1007/..

5

Experiences of nonpregnant couples after receiving reproduc..:

Van Steijvoort, Eva ; Peeters, Hilde ; Vandecruys, Hilde...
European Journal of Human Genetics. 31 (2023) 6 - p. 696-702 , 2023

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

6

Clinical and biological profile of Sickle Cell Anemia child..:

Mbayabo, Gloire ; Ngole, Mamy ; Lumbala, Paul Kabuyi...
Hematology. 28 (2023) 1 - p. , 2023

Link: https://doi.org/10.1080/..

7

Hydroxyurea treatment for adult sickle cell anemia patients..:

Kabuyi, Paul Lumbala ; Mbayabo, Gloire ; Ngole, Mamy...
eJHaem. 4 (2023) 3 - p. 595-601 , 2023

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

8

DNA testing for sickle cell anemia in Africa: Implementatio..:

Ngole, Mamy ; Race, Valerie ; Mbayabo, Gloire...
Journal of Clinical Laboratory Analysis. 36 (2022) 5 - p. , 2022

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

9

CAMLG-CDG: a novel congenital disorder of glycosylation lin..:

Wilson, Matthew P ; Durin, Zoé ; Unal, Özlem...
Human Molecular Genetics. 31 (2022) 15 - p. 2571-2581 , 2022

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

10

Recommendations for whole genome sequencing in diagnostics ..:

Souche, Erika ; Beltran, Sergi ; Brosens, Erwin...
European Journal of Human Genetics. 30 (2022) 9 - p. 1017-1021 , 2022

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

11

Reasons affecting the uptake of reproductive genetic carrie..:

Van Steijvoort, Eva ; Demuynck, Remke ; Peeters, Hilde...
Journal of Genetic Counseling. 31 (2022) 5 - p. 1043-1053 , 2022

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

12

Knowledge, attitudes and preferences regarding reproductive..:

Van Steijvoort, Eva ; Devolder, Heleen ; Geysen, Inne...
European Journal of Human Genetics. 30 (2022) 11 - p. 1255-1261 , 2022

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

13

Lack of NKG2D in MAGT1-deficient patients is caused by hypo..:

Blommaert, Eline ; Cherepanova, Natalia A. ; Staels, Frederik...
Human Genetics. 141 (2022) 7 - p. 1279-1286 , 2022

Link: https://doi.org/10.1007/..

14

CDG or not CDG:

Freeze, Hudson H. ; Jaeken, Jaak ; Matthijs, Gert
Journal of Inherited Metabolic Disease. 45 (2022) 3 - p. 383-385 , 2022

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

15

Exploring informed choice in preconception reproductive gen..:

Van Steijvoort, Eva ; Peeters, Hilde ; Vandecruys, Hilde...
Patient Education and Counseling. 105 (2022) 11 - p. 3313-3318 , 2022

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