E-LIB Suche - Ergebnisse für: Cuscó, Ivon

1

Identification of a pathogenic mutation inARPP21in patients..:

Dols-Icardo, Oriol ; Carbayo, Álvaro ; Jericó, Ivonne...
Journal of Neurology, Neurosurgery & Psychiatry. , 2024

Link: https://doi.org/10.1136/..

2

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/..

3

Delineation of the adult phenotype of Coffin–Siris syndrome..:

Schmetz, Ariane ; Lüdecke, Hermann-Josef ; Surowy, Harald...
Human Genetics. 143 (2023) 1 - p. 71-84 , 2023

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

4

An spanish study of secondary findings in families affected..:

Codina-Solà, Marta ; Trujillano, Laura ; Abulí, Anna...
European Journal of Human Genetics. 31 (2022) 2 - p. 223-230 , 2022

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

5

Clinical and molecular characterization of five new individ..:

Morales, Jose Andres ; Valenzuela, Irene ; Cuscó, Ivon...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1396-1406 , 2022

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

6

De novo missense variants in the E3 ubiquitin ligase adapto..:

Sleyp, Yoeri ; Valenzuela, Irene ; Accogli, Andrea...
Genetics in Medicine. 24 (2022) 12 - p. 2464-2474 , 2022

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

7

Deep Molecular Characterization of Milder Spinal Muscular A..:

Blasco-Pérez, Laura ; Costa-Roger, Mar ; Leno-Colorado, Jordi...
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8289 , 2022

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

8

A Novel Intragenic Duplication in the HDAC8 Gene Underlying..:

Lucia-Campos, Cristina ; Valenzuela, Irene ; Latorre-Pellicer, Ana...
Genes. 13 (2022) 8 - p. 1413 , 2022

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

9

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/..

10

The Importance of Digging into the Genetics of SMN Genes in..:

Costa-Roger, Mar ; Blasco-Pérez, Laura ; Cuscó, Ivon.
International Journal of Molecular Sciences. 22 (2021) 16 - p. 9029 , 2021

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

11

Vein of Galen aneurysm, dilated cardiomyopathy, and slender..:

Valenzuela, Irene ; Guillén Benítez, Elena ; Sanchez‐Montanez, Angel...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 991-995 , 2021

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

12

Beyond copy number: A new, rapid, and versatile method for ..:

Blasco‐Pérez, Laura ; Paramonov, Ida ; Leno, Jordi...
Human Mutation. 42 (2021) 6 - p. 787-795 , 2021

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

13

Expanding the phenotype of cerebellar‐facial‐dental syndrom..:

Valenzuela, Irene ; Codina, Marta ; Fernández‐Álvarez, Paula...
American Journal of Medical Genetics Part A. 182 (2020) 11 - p. 2742-2745 , 2020

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

14

TCF12 haploinsufficiency causes autosomal dominant Kallmann..:

Davis, Erica E ; Balasubramanian, Ravikumar ; Kupchinsky, Zachary A...
Human Molecular Genetics. 29 (2020) 14 - p. 2435-2450 , 2020

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

15

Defective minor spliceosomemRNAprocessing results in isolat..:

Argente, Jesús ; Flores, Raquel ; Gutiérrez‐Arumí, Armand...
EMBO Molecular Medicine. 12 (2020) 9 - p. , 2020

Link: https://doi.org/10.15252..