E-LIB Suche - Ergebnisse für: Maystadt, Isabelle

1

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

Bayat, Allan ; Grimes, Hannah ; de Boer, Elke...
Genetics in Medicine. 26 (2024) 8 - p. 101170 , 2024

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

2

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics. , 2024

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

3

Correction: Clinical findings and a DNA methylation signatu..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics. , 2023

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

4

Clinical Non-penetrance Associated with Biallelic Mutations..:

Crow, Yanick J. ; Gonzalez-Granado, Luis I ; Coarelli, Giulia...
Journal of Clinical Immunology. 43 (2023) 4 - p. 706-708 , 2023

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

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

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100168 , 2023

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

7

SOX5: Lamb–Shaffer syndrome—A case series further expanding..:

Edgerley, Katharine ; Bryson, Lisa ; Hanington, Lucy...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1447-1458 , 2023

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

8

Further characterization of Borjeson‐Forssman‐Lehmann syndr..:

Gerber, Céline B. ; Fliedner, Anna ; Bartsch, Oliver...
Clinical Genetics. 102 (2022) 3 - p. 182-190 , 2022

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

9

Natural history of KBG syndrome in a large European cohort:

Loberti, Lorenzo ; Bruno, Lucia Pia ; Granata, Stefania...
Human Molecular Genetics. 31 (2022) 24 - p. 4131-4142 , 2022

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

10

Clinical findings and a DNA methylation signature in kindre..:

Wang, Jiyong ; Foroutan, Aidin ; Richardson, Ellen...
European Journal of Human Genetics. 30 (2022) 4 - p. 420-427 , 2022

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

11

Bi-allelic variants in DOHH, catalyzing the last step of hy..:

Ziegler, Alban ; Steindl, Katharina ; Hanner, Ashleigh S....
The American Journal of Human Genetics. 109 (2022) 8 - p. 1549-1558 , 2022

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

12

Variants in PHF8 cause a spectrum of X-linked neurodevelopm..:

Sobering, Andrew K. ; Bryant, Laura M. ; Li, Dong...
Human Genetics and Genomics Advances. 3 (2022) 3 - p. 100102 , 2022

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

13

An HNRNPK-specific DNA methylation signature makes sense of..:

Choufani, Sanaa ; McNiven, Vanda ; Cytrynbaum, Cheryl...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022

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

14

Case Report: Inactivating PTH/PTHrP Signaling Disorder Type..:

Demaret, Tanguy ; Wintjens, René ; Sana, Gwenaelle...
Frontiers in Endocrinology. 13 (2022) - p. , 2022

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

15

Understanding the new BRD4‐related syndrome: Clinical and g..:

Jouret, Guillaume ; Heide, Solveig ; Sorlin, Arthur...
Clinical Genetics. 102 (2022) 2 - p. 117-122 , 2022

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