E-LIB Suche - Ergebnisse für: Diets, Illja J

1

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics. , 2024

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

2

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance. 7 (2024) 3 - p. e202302258 , 2024

Link: https://doi.org/10.26508..

3

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J. M. ; Hinne, Max ; Truijen, Kim M. G....
Nature Genetics. 55 (2023) 9 - p. 1598-1607 , 2023

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

4

Childhood Cancer Predisposition:

, In: Pediatric Oncology; Rare Tumors in Children and Adolescents,

Merks, Johannes H. M. ; Diets, Illja ; Brecht, Ines B.. - p. 31-36 , 2022

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

5

Clinical, Pathology, Genetic, and Molecular Features of Col..:

de Voer, Richarda M. ; Diets, Illja J. ; van der Post, Rachel S....
Clinical Gastroenterology and Hepatology. 19 (2021) 8 - p. 1642-1651.e8 , 2021

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

6

TRIM28 variants and Wilms' tumour predisposition:

Hol, Janna A ; Diets, Illja J ; de Krijger, Ronald R...
The Journal of Pathology. 254 (2021) 4 - p. 494-504 , 2021

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

7

Selection criteria for assembling a pediatric cancer predis..:

Byrjalsen, Anna ; Diets, Illja J. ; Bakhuizen, Jette...
Familial Cancer. 20 (2021) 4 - p. 279-287 , 2021

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

8

In Response to: Pediatric Myelodysplastic Syndrome with Ger..:

van Engelen, Nienke ; Diets, Illja ; Bresters, Dorine...
Journal of Pediatric Hematology/Oncology. 44 (2021) 2 - p. 69-69 , 2021

Link: https://doi.org/10.1097/..

9

A recurrent de novo missense pathogenic variant in SMARCB1 ..:

Diets, Illja J. ; Prescott, Trine ; Champaigne, Neena L....
Genetics in Medicine. 21 (2019) 3 - p. 572-579 , 2019

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

10

Ribosomal protein gene RPL9 variants can differentially imp..:

Lezzerini, Marco ; Penzo, Marianna ; O'Donohue, Marie-Françoise...
Nucleic Acids Research. 48 (2019) 2 - p. 770-787 , 2019

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

11

TRIM28 haploinsufficiency predisposes to Wilms tumor:

Diets, Illja J. ; Hoyer, Juliane ; Ekici, Arif B....
International Journal of Cancer. 145 (2019) 4 - p. 941-951 , 2019

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

12

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J.M ; Hinne, Max ; Truijen, Kim M.G...
https://eprints.soton.ac.uk/480825/1/PhenoScore_manuscript_final.pdf. , 2023

Link: https://eprints.soton.ac..

13

In Response to: Pediatric Myelodysplastic Syndrome with Ger..:

van Engelen, Nienke ; Diets, Illja ; Bresters, Dorine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8876415/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Clinical, Pathology, Genetic, and Molecular Features of Col..:

de Voer, Richarda M ; Diets, Illja J ; van der Post, Rachel S...
de Voer , R M , Diets , I J , van der Post , R S , Weren , R D A , Kamping , E J , de Bitter , T J J , Elze , L , Verhoeven , R H A , Vink-Börger , E , Eijkelenboom , A , Mensenkamp , A , Nagtegaal , I D , Jongmans , M C J & Ligtenberg , M J L 2021 , ' Clinical, Pathology, Genetic, and Molecular Features of Colorectal Tumors in Adolescents and Adults 25 Years or Younger ' , Clinical Gastroenterology and Hepatology , vol. 19 , no. 8 , pp. 1642-1651.e8 . https://doi.org/10.1016/j.cgh.2020.06.034. , 2021

Link: https://research.vumc.nl..

15

Ribosomal protein gene RPL9 variants can differentially imp..:

Lezzerini, Marco ; Penzo, Marianna ; O'Donohue, Marie-Françoise...
info:eu-repo/semantics/altIdentifier/doi/10.1093/nar/gkz1042. , 2020

Link: https://hal.science/hal-..