E-LIB Suche - Ergebnisse für: Skinner, Cindy

1

Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-b..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry. 15 (2024) - p. , 2024

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

2

Detection of Constitutional Structural Variants by Optical ..:

Broeckel, Ulrich ; Iqbal, M. Anwar ; Levy, Brynn...
The Journal of Molecular Diagnostics. 26 (2024) 3 - p. 213-226 , 2024

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

3

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2024

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

4

Characterization of a Clinically and Biologically Defined S..:

Pérez-Cano, Laura ; Boccuto, Luigi ; Sirci, Francesco...
Biomedicines. 12 (2024) 5 - p. 991 , 2024

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

5

PTCHD1 gene mutation/deletion: the cognitive-behavioral phe..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry. 14 (2024) - p. , 2024

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

6

PRDM1 DNA-binding zinc finger domain is required for normal..:

Truong, Brittany T. ; Shull, Lomeli C. ; Lencer, Ezra...
Disease Models & Mechanisms. 16 (2023) 4 - p. , 2023

Link: https://doi.org/10.1242/..

7

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/..

8

Identification of a DNA methylation signature for Renpennin..:

Haghshenas, Sadegheh ; Foroutan, Aidin ; Bhai, Pratibha...
European Journal of Human Genetics. 31 (2023) 8 - p. 879-886 , 2023

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

9

Sleep disturbances in Phelan‐McDermid syndrome: Clinical an..:

Moffitt, Bridgette A. ; Oberman, Lindsay M. ; Beamer, Laura...
Clinical Genetics. 104 (2023) 2 - p. 198-209 , 2023

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

10

Defining the 3′Epigenetic Boundary of the FMR1 Promoter and..:

Godler, David E. ; Inaba, Yoshimi ; Bui, Minh Q....
International Journal of Molecular Sciences. 24 (2023) 13 - p. 10712 , 2023

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

11

Multisite Assessment of Optical Genome Mapping for Analysis..:

Iqbal, M. Anwar ; Broeckel, Ulrich ; Levy, Brynn...
The Journal of Molecular Diagnostics. 25 (2023) 3 - p. 175-188 , 2023

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

12

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/..

13

Expansion and mechanistic insights into de novo DEAF1 varia..:

McGee, Stacey R ; Rajamanickam, Shivakumar ; Adhikari, Sandeep...
Human Molecular Genetics. 32 (2022) 3 - p. 386-401 , 2022

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

14

A novel partial duplication in OPHN1, associated with vermi..:

Kirola, Laxmi ; Norris, Joy ; Holloway, Lynda...
Gene Reports. 27 (2022) - p. 101590 , 2022

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

15

6. Optical genome mapping as a potential Tier1 test for Pos..:

Iqbal, M. Anwar ; Broeckel, Ulrich ; Levy, Brynn...
Cancer Genetics. 264-265 (2022) - p. 2-3 , 2022

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