E-LIB Suche - Ergebnisse für: de Boer, Elke

1

Natural history of adults with KBG syndrome: a physician-re..:

Bayat, Allan ; Grimes, Hannah ; de Boer, Elke...
Genetics in Medicine. , 2024

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

2

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/..

3

History and highlights of the teratological collection in t..:

Boer, Lucas L. ; Kircher, Susanne Gerit ; Rehder, Helga...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1301-1324 , 2023

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

4

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

5

Noncoding variants alter GATA2 expression in rhombomere 4 m..:

Tenney, Alan P. ; Di Gioia, Silvio Alessandro ; Webb, Bryn D....
Nature Genetics. 55 (2023) 7 - p. 1149-1163 , 2023

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

6

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/..

7

Correction: Mobile element insertions in rare diseases: a c..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

8

Mobile element insertions in rare diseases: a comparative b..:

Wijngaard, Robin ; Demidov, German ; O'Gorman, Luke...
European Journal of Human Genetics. , 2023

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

9

Systematic analysis of paralogous regions in 41,755 exomes ..:

Steyaert, Wouter ; Haer-Wigman, Lonneke ; Pfundt, Rolph...
Nature Communications. 14 (2023) 1 - p. , 2023

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

10

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023

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

11

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 24 (2022) 10 - p. 2051-2064 , 2022

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

12

Genome-wide variant calling in reanalysis of exome sequenci..:

de Boer, Elke ; Yaldiz, Burcu ; Denommé-Pichon, Anne-Sophie...
European Journal of Medical Genetics. 65 (2022) 1 - p. 104402 , 2022

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

13

A MT-TL1 variant identified by whole exome sequencing in an..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics. 29 (2021) 9 - p. 1359-1368 , 2021

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

14

Correction: A MT-TL1 variant identified by whole exome sequ..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Matalonga, Leslie...
European Journal of Human Genetics. 29 (2021) 9 - p. 1470-1471 , 2021

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

15

Alternative genomic diagnoses for individuals with a clinic..:

Dyment, David A. ; O'Donnell‐Luria, Anne ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A. 185 (2020) 1 - p. 119-133 , 2020

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