E-LIB Suche - Ergebnisse für: Blasco-Pérez, Laura

1

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/..

2

Recommendations for Interpreting and Reporting Silent Carri..:

Milligan, John N. ; Blasco-Pérez, Laura ; Costa-Roger, Mar..
Genes. 13 (2022) 9 - p. 1657 , 2022

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

3

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/..

4

Three years pilot of spinal muscular atrophy newborn screen..:

Boemer, François ; Caberg, Jean-Hubert ; Beckers, Pablo...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

5

Phenotypic Variability of Patients With PAX8 Variants Prese..:

Camats, Núria ; Baz-Redón, Noelia ; Fernández-Cancio, Mónica...
The Journal of Clinical Endocrinology & Metabolism. 106 (2020) 1 - p. e152-e170 , 2020

Link: https://doi.org/10.1210/..

6

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Link..:

Rivière, Jacques G. ; Franco-Jarava, Clara ; Martínez-Gallo, Mónica...
Frontiers in Immunology. 11 (2020) - p. , 2020

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

7

Deep Molecular Characterization of Milder Spinal Muscular A..:

Blasco-Pérez, Laura ; Costa-Roger, Mar ; Leno-Colorado, Jordi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9368089/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Recommendations for Interpreting and Reporting Silent Carri..:

Milligan, John N ; Blasco-Pérez, Laura ; Costa-Roger, Mar..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498682/. , 2022

Link: http://www.ncbi.nlm.nih...

9

Deep Molecular Characterization of Milder Spinal Muscular A..:

Blasco-Pérez, Laura ; Costa-Roger, Mar ; Leno Colorado, Jordi...
Instituto de Salud Carlos III FIS PI18/000687. , 2022

Link: https://ddd.uab.cat/reco..

10

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

Blasco-Pérez, Laura ; Paramonov, Ida ; Leno Colorado, Jordi...
Instituto de Salud Carlos III FIS PI18/000687. , 2021

Link: https://ddd.uab.cat/reco..

11

Three years pilot of spinal muscular atrophy newborn screen..:

Boemer, François ; Caberg, Jean-Hubert ; Beckers, Pablo...
boreal:261569. , 2021

Link: http://hdl.handle.net/20..

12

Three years pilot of spinal muscular atrophy newborn screen..:

BOEMER, François ; Caberg, Jean-Hubert ; Beckers, Pablo...
urn:issn:2045-2322. , 2021

Link: https://orbi.uliege.be/h..

13

Three years pilot of spinal muscular atrophy newborn screen..:

Boemer, François ; Caberg, Jean-Hubert ; Beckers, Pablo...
uri/info:doi/10.1038/s41598-021-99496-2. , 2021

Link: http://hdl.handle.net/20..

14

Three years pilot of spinal muscular atrophy newborn screen..:

Boemer, François ; Caberg, Jean-Hubert ; Beckers, Pablo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8497564/. , 2021

Link: http://www.ncbi.nlm.nih...

15

Three years pilot of spinal muscular atrophy newborn screen..:

Boemer, François ; Caberg, Jean-Hubert ; Beckers, Pablo...
boreal:261569. , 2021

Link: http://hdl.handle.net/20..