E-LIB Suche - Ergebnisse für: López-Martin, Estrella

1

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A. ; Lee, Winston...
Journal of Clinical Investigation. 133 (2023) 10 - p. , 2023

Link: https://doi.org/10.1172/..

2

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
Genetics in Medicine. 25 (2023) 4 - p. 100018 , 2023

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

3

Differences in Expression of IQSEC2 Transcript Isoforms in ..:

Baladron, Beatriz ; Mielu, Lidia M. ; López-Martín, Estrella...
International Journal of Molecular Sciences. 23 (2022) 16 - p. 9480 , 2022

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

4

Five new cases of syndromic intellectual disability due to ..:

Urreizti, Roser ; Lopez-Martin, Estrella ; Martinez-Monseny, Antonio...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

5

SpainUDP: The Spanish Undiagnosed Rare Diseases Program:

López-Martín, Estrella ; Martínez-Delgado, Beatriz ; Bermejo-Sánchez, Eva...
International Journal of Environmental Research and Public Health. 15 (2018) 8 - p. 1746 , 2018

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

6

Hyperkinetic Movement Disorder Caused by the Recurrent c.89..:

Komulainen-Ebrahim, Jonna ; Kangas, Salla M ; López-Martín, Estrella...
https://discovery.ucl.ac.uk/id/eprint/10192338/1/Hyperkinetic%20Movement%20Disorder%20Caused%20by%20the%20Recurrent%20c%20892C%20T.pdf. , 2024

Link: https://discovery.ucl.ac..

7

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston...
https://boris.unibe.ch/189663/. , 2023

Link: https://boris.unibe.ch/1..

8

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
info:eu-repo/semantics/altIdentifier/pmid/36681873. , 2023

Link: https://hdl.handle.net/1..

9

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston...
info:eu-repo/semantics/altIdentifier/pmid/36976648. , 2023

Link: https://hdl.handle.net/1..

10

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

Link: https://orbilu.uni.lu/ha..

11

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://doi.org/10.1016/j.gim.2023.100018. , 2023

Link: https://hdl.handle.net/2..

12

A Solve-RD ClinVar-based reanalysis of 1522 index cases fro..:

DENOMMÉ-PICHON, Anne-Sophie ; MATALONGA, Leslie ; DE BOER, Elke...
1530-0366. , 2023

Link: https://oskar-bordeaux.f..

13

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston...
https://doi.org/10.1172/JCI165019. , 2023

Link: https://hdl.handle.net/2..

14

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston...
https://portal.findresearcher.sdu.dk/da/publications/48346282-4246-4625-976e-36b3724e611d. , 2023

Link: https://portal.findresea..

15

A Solve-RD ClinVar-based reanalysis of 1,522 index cases fr..:

Denommé-Pichon, Anne-Sophie ; Matalonga, Leslie ; de Boer, Elke...
https://research.manchester.ac.uk/en/publications/808ecb80-2dbd-4b35-afcd-a1f7cd87e7f3. , 2023

Link: https://research.manches..