E-LIB Suche - Ergebnisse für: de Leeuw, Nicole

1

Genome sequencing as a generic diagnostic strategy for rare..:

Schobers, Gaby ; Derks, Ronny ; den Ouden, Amber...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

2

Lessons learned from rapid exome sequencing for 575 critica..:

Marouane, Abderrahim ; Neveling, Kornelia ; Deden, A. Chantal...
Frontiers in Genetics. 14 (2024) - p. , 2024

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

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

All‐in‐one whole exome sequencing strategy with simultaneou..:

Faas, Brigitte H. W. ; Westra, Dineke ; de Munnik, Sonja A....
Prenatal Diagnosis. 43 (2023) 4 - p. 527-543 , 2023

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

5

Genetic diagnostic approach to intellectual disability and ..:

Sihombing, Nydia Rena Benita ; Winarni, Tri Indah ; de Leeuw, Nicole...
Intractable & Rare Diseases Research. 12 (2023) 2 - p. 104-113 , 2023

Link: https://doi.org/10.5582/..

6

Pathogenic variants in the paired-related homeobox 1 gene (..:

Tooze, Rebecca S. ; Miller, Kerry A. ; Swagemakers, Sigrid M.A....
Genetics in Medicine. 25 (2023) 9 - p. 100883 , 2023

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

7

A complex structural variant near SOX3 causes X-linked spli..:

de Boer, Elke ; Marcelis, Carlo ; Neveling, Kornelia...
Human Genetics and Genomics Advances. 4 (2023) 3 - p. 100200 , 2023

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

8

Copy number variants from 4800 exomes contribute to ~7% of ..:

Pennings, Maartje ; Meijer, Rowdy P. P. ; Gerrits, Monique...
European Journal of Human Genetics. 31 (2023) 6 - p. 654-662 , 2023

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

9

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/..

10

Diagnostic yield of patients with undiagnosed intellectual ..:

Leite, Ana Julia da Cunha ; Pinto, Irene Plaza ; Leijsten, Nico...
PLOS ONE. 17 (2022) 4 - p. e0266493 , 2022

Link: https://doi.org/10.1371/..

11

Biallelic frameshift variant in the TBC1D2B gene in two sib..:

Correia‐Costa, Gabriela Roldão ; de Leeuw, Nicole ; Pfundt, Rolph...
Clinical Genetics. 102 (2022) 6 - p. 537-542 , 2022

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

12

Phenotype based prediction of exome sequencing outcome usin..:

Dingemans, Alexander J.M. ; Hinne, Max ; Jansen, Sandra...
Genetics in Medicine. 24 (2022) 3 - p. 645-653 , 2022

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

13

LRFN5 locus structure is associated with autism and influen..:

Lybæk, Helle ; Robson, Michael ; de Leeuw, Nicole...
Autism Research. 15 (2022) 3 - p. 421-433 , 2022

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

14

Phenotype of COL3A1/COL5A2 deletion patients:

Kempers, Marlies JE. ; Wessels, Marja ; Van Berendoncks, An...
European Journal of Medical Genetics. 65 (2022) 10 - p. 104593 , 2022

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

15

Dual Molecular Diagnoses of Recessive Disorders in a Child ..:

Correia-Costa, Gabriela Roldão ; dos Santos, Ana Mondadori ; de Leeuw, Nicole...
Genes. 13 (2022) 12 - p. 2377 , 2022

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