E-LIB Suche - Ergebnisse für: Marcelis, Carlo

1

Prevalence of comorbidities in individuals with neurodevelo..:

Dingemans, Alexander J. M. ; Jansen, Sandra ; van Reeuwijk, Jeroen...
Nature Medicine. 30 (2024) 7 - p. 1994-2003 , 2024

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

2

Refining the 9q34.3 microduplication syndrome reveals mild ..:

Rots, Dmitrijs ; Rooney, Kathleen ; Relator, Raissa...
Clinical Genetics. 105 (2024) 6 - p. 655-660 , 2024

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

3

De novo variants in ATXN7L3 lead to developmental delay, hy..:

Harel, Tamar ; Spicher, Camille ; Scheer, Elisabeth...
Brain. 147 (2024) 8 - p. 2732-2744 , 2024

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

4

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical a..:

Wojcik, Monica H. ; Srivastava, Siddharth ; Agrawal, Pankaj B....
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1900-1910 , 2023

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

5

Elucidating the clinical and molecular spectrum of SMARCC2-..:

Bosch, Elisabeth ; Popp, Bernt ; Güse, Esther...
Genetics in Medicine. 25 (2023) 11 - p. 100950 , 2023

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

6

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/..

7

Variant Location Is a Novel Risk Factor for Individuals Wit..:

Hoorntje, Edgar T. ; Burns, Charlotte ; Marsili, Luisa...
Circulation: Genomic and Precision Medicine. 16 (2023) 1 - p. , 2023

Link: https://doi.org/10.1161/..

8

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/..

9

TheMAP3K7gene: Further delineation of clinical characterist..:

van Woerden, Geeske M. ; Senden, Richelle ; de Konink, Charlotte...
Human Mutation. 43 (2022) 10 - p. 1377-1395 , 2022

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

10

Heterozygous and homozygous variants in STX1A cause a neuro..:

Luppe, Johannes ; Sticht, Heinrich ; Lecoquierre, François...
European Journal of Human Genetics. 31 (2022) 3 - p. 345-352 , 2022

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

11

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Coh..:

van der Meulen, Marijke H. ; Herkert, Johanna C. ; den Boer, Susanna L....
Circulation: Genomic and Precision Medicine. , 2022

Link: https://doi.org/10.1161/..

12

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, Alistair T ; Kaiyrzhanov, Rauan ; Zou, Yaqun...
Brain. 144 (2021) 2 - p. 584-600 , 2021

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

13

Beyond nephronophthisis: Retinal dystrophy in the absence o..:

Veldman, Bram C. F. ; Kuper, Willemijn F. E. ; Lilien, Marc...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2204-2210 , 2021

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

14

A mutation update for theFLNCgene in myopathies and cardiom..:

Verdonschot, Job A. J. ; Vanhoutte, Els K. ; Claes, Godelieve R. F....
Human Mutation. 41 (2020) 6 - p. 1091-1111 , 2020

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

15

The Connective Tissue Disorder Associated with Recessive Va..:

Kumps, Camille ; Campos-Xavier, Belinda ; Hilhorst-Hofstee, Yvonne...
Genes. 11 (2020) 4 - p. 420 , 2020

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