E-LIB Suche - Ergebnisse für: Marjolaine Willems

1

Genetic determinism and hemispheric influence in hair whorl..:

Willems, Marjolaine ; Hennocq, Quentin ; de Lara, Sara Tunon...
Journal of Stomatology, Oral and Maxillofacial Surgery. 125 (2024) 2 - p. 101664 , 2024

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

2

Mass cytometry reveals atypical immune profile notably impa..:

Mauhin, Wladimir ; Dzangue‐Tchoupou, Gaelle ; Amelin, Damien...
Journal of Inherited Metabolic Disease. 47 (2024) 4 - p. 818-833 , 2024

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

3

Discovery of DNA methylation signature in the peripheral bl..:

Haghshenas, Sadegheh ; Putoux, Audrey ; Reilly, Jack...
Genetics in Medicine. , 2024

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

4

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics. 143 (2024) 6 - p. 761-773 , 2024

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

5

Mosaic EGFR exon 20 in-frame insertion pathogenic variants ..:

Bessis, Didier ; Poujade, Laura ; Cossée, Mireille...
British Journal of Dermatology. , 2024

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

6

Next generation phenotyping for diagnosis and phenotype–gen..:

Hennocq, Quentin ; Willems, Marjolaine ; Amiel, Jeanne...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

7

Dermatological manifestations in Costello syndrome: A prosp..:

Bessis, Didier ; Bursztejn, Anne‐Claire ; Morice‐Picard, Fanny...
Journal of the European Academy of Dermatology and Venereology. , 2024

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

8

Combining globally search for a regular expression and prin..:

Tran Mau-Them, Frédéric ; Overs, Alexis ; Bruel, Ange-Line...
Frontiers in Genetics. 14 (2023) - p. , 2023

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

9

Cat eye syndrome: Clinical, cytogenetics and familial findi..:

Jedraszak, Guillaume ; Jobic, Florence ; Receveur, Aline...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

10

Postnatal outcome of children with antenatal colonic hypere..:

Fuchs, Florent ; Rodriguez, Alexis ; Mousty, Eve...
Prenatal Diagnosis. 44 (2023) 1 - p. 28-34 , 2023

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

11

Corrigendum: Intrafamilial variability in SLC6A1-related ne..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

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

12

AI-based diagnosis in mandibulofacial dysostosis with micro..:

Hennocq, Quentin ; Bongibault, Thomas ; Marlin, Sandrine...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

13

Growth charts in DYRK1A syndrome:

Lanvin, Pierre‐Louis ; Goronflot, Thomas ; Isidor, Bertrand...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 9-16 , 2023

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

14

Association of Meier-Gorlin and microcephalic osteodysplast..:

Sabbagh, Quentin ; Tharreau, Mylène ; Cenni, Camille...
European Journal of Medical Genetics. 66 (2023) 5 - p. 104733 , 2023

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

15

Intrafamilial variability in SLC6A1-related neurodevelopmen..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

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