E-LIB Suche - Ergebnisse für: Legius, Eric

1

Pigment epithelium derived factor drives melanocyte prolife..:

Lovatt, Charlotte ; Williams, Megan ; Gibbs, Alex...
Skin Health and Disease. , 2024

2

Gonadales und gonadosomatisches Neurofibromatose‐Typ‐1‐Mosa..:

Seidl‐Philipp, Magdalena ; Veyt, Nathalie ; Schnaiter, Simon...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 22 (2024) 3 - p. 426-429 , 2024

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

3

The phenotypic and genotypic spectrum of individuals with m..:

Furia, Francesca ; Levy, Amanda M. ; Theunis, Miel...
Clinical Genetics. , 2024

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

4

Intellectual Disability and Behavioral Deficits Linked to C..:

Mariano, Vittoria ; Kanellopoulos, Alexandros K. ; Ricci, Carlotta...
Biological Psychiatry. 95 (2024) 2 - p. 161-174 , 2024

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

5

Constitutional mismatch repair deficiency mimicking Lynch s..:

Gallon, Richard ; Brekelmans, Carlijn ; Martin, Marie...
npj Precision Oncology. 8 (2024) 1 - p. , 2024

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

6

Gonadal and gonadosomatic mosaicism in NF1: report of two f..:

Seidl‐Philipp, Magdalena ; Veyt, Nathalie ; Schnaiter, Simon...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 22 (2024) 3 - p. 426-428 , 2024

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

7

Platform trial design for neurofibromatosis type 1, NF2-rel..:

Dhaenens, Britt A E ; Heimann, Günter ; Bakker, Annette...
Neuro-Oncology Practice. 11 (2024) 4 - p. 395-403 , 2024

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

8

Deep genomic analysis of malignant peripheral nerve sheath ..:

Magallón-Lorenz, Miriam ; Terribas, Ernest ; Ortega-Bertran, Sara...
iScience. 26 (2023) 2 - p. 106096 , 2023

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

9

The neurodevelopmental and facial phenotype in individuals ..:

Aerden, Mio ; Denommé-Pichon, Anne-Sophie ; Bonneau, Dominique...
European Journal of Human Genetics. 31 (2023) 4 - p. 461-468 , 2023

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

10

ERN GENTURIS tumour surveillance guidelines for individuals..:

Carton, Charlotte ; Evans, D. Gareth ; Blanco, Ignacio...
eClinicalMedicine. 56 (2023) - p. 101818 , 2023

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

11

Preclinical workup using long-read amplicon sequencing prov..:

Tsuiko, Olga ; El Ayeb, Yasmine ; Jatsenko, Tatjana...
Human Reproduction. 38 (2023) 3 - p. 511-519 , 2023

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

12

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine. 25 (2023) 7 - p. 100835 , 2023

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

13

SREBP modulates the NADP+/NADPH cycle to control night slee..:

Mariano, Vittoria ; Kanellopoulos, Alexandros K. ; Aiello, Giuseppe...
Nature Communications. 14 (2023) 1 - p. , 2023

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

14

Capillary malformations in a child caused by a novel HRAS m..:

van Gysel, Dirk ; de Maeseneer, Hannelore ; Legius, Eric.
Pediatric Dermatology. 41 (2023) 2 - p. 289-291 , 2023

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

15

Germline founder variant c.1998delinsTTCT in the RET oncoge..:

Vuylsteke, Axelle ; Hannes, Laurens ; Brems, Hilde...
European Journal of Endocrinology. 189 (2023) 3 - p. 402-408 , 2023

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