E-LIB Suche - Ergebnisse für: Palomares Bralo, María

1

Functional correlation of genome‐wide DNA methylation profi..:

Levy, Michael A. ; Relator, Raissa ; McConkey, Haley...
Human Mutation. 43 (2022) 11 - p. 1609-1628 , 2022

2

Skin and nails abnormalities in a patient with ZTTK syndrom..:

Quintana Castanedo, Lucía ; Sánchez Orta, Alba ; Maseda Pedrero, Rocío...
Pediatric Dermatology. 37 (2020) 3 - p. 517-519 , 2020

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

3

Further delineation of neuropsychiatric findings in Tatton-..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
European Journal of Human Genetics. 28 (2019) 4 - p. 469-479 , 2019

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

4

Customized high resolution CGH‐array for clinical diagnosis..:

Vallespín, Elena ; Palomares Bralo, María ; Mori, M. Ángeles...
American Journal of Medical Genetics Part A. 161 (2013) 8 - p. 1950-1960 , 2013

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

5

Direct tandem duplication in chromosome 19q characterized b..:

Palomares Bralo, Maria ; Delicado, Alicia ; Lapunzina, Pablo...
European Journal of Medical Genetics. 51 (2008) 3 - p. 257-263 , 2008

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

6

Novel diagnostic DNA methylation episignatures expand and r..:

Levy, Michael A. ; McConkey, Haley ; Kerkhof, Jennifer...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100075 , 2022

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

7

The recurrent TCF4 missense variant p.(Arg389Cys) causes a ..:

Popp, Bernt ; Bienvenu, Thierry ; Giurgea, Irina...
Clinical Genetics. 102 (2022) 6 - p. 517-523 , 2022

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

8

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100289 , 2024

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

9

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac,..:

Palma-Milla, Carmen ; Prat-Planas, Aina ; Soengas-Gonda, Emma...
Pediatric Neurology. 155 (2024) - p. 8-17 , 2024

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

10

YWHAE loss of function causes a rare neurodevelopmental dis..:

Denommé-Pichon, Anne-Sophie ; Collins, Stephan C. ; Bruel, Ange-Line...
Genetics in Medicine. 25 (2023) 7 - p. 100835 , 2023

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

11

Variability in Phelan-McDermid Syndrome in a Cohort of 210 ..:

Nevado, Julián ; García-Miñaúr, Sixto ; Palomares-Bralo, María...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

12

Expanding the Phenotypic Spectrum of PAX6 Mutations: From C..:

Nieves-Moreno, Maria ; Noval, Susana ; Peralta, Jesus...
Genes. 12 (2021) 5 - p. 707 , 2021

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

13

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics. 31 (2021) 3 - p. 440-454 , 2021

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

14

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:

Santos-Simarro, Fernando ; Pacio, Marta ; Cueto-González, Anna María...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021

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

15

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Diso..:

Tenorio-Castaño, Jair ; Morte, Beatriz ; Nevado, Julián...
Genes. 12 (2021) 5 - p. 738 , 2021

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