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López-Martín, Estrella
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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6

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: http://orbilu.uni.lu/han..
 
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7

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..
 
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8

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..
 
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9

CERT1 mutations perturb human development by disrupting sph..:

Gehin, Charlotte ; Lone, Museer A ; Lee, Winston...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178846/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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10

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..
 
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11

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..
 
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12

Differences in Expression of IQSEC2 Transcript Isoforms in ..:

Baladron, Beatriz ; Mielu, Lidia M ; López-Martín, Estrella...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409358/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

Differences in Expression of IQSEC2 Transcript Isoforms in ..:

Baladron-Jimenez, Beatriz Isabel ; Mielu, Lidia M ; Lopez-Martin, Estrella...
Publisher's version.  , 2022
Link: https://hdl.handle.net/2..
 
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14

The RD-Connect Genome-Phenome Analysis Platform : Accelerat..:

Laurie, Steven ; Piscia, Davide ; Matalonga, Leslie...
Human Mutation, 1059-7794, 2022, 43:6, s. 717-733.  , 2022
Link: http://urn.kb.se/resolve..
 
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15

The RD-Connect Genome-Phenome Analysis Platform: Accelerati..:

Laurie, Steven ; Piscia, Davide ; Matalonga, Leslie...
https://doi.org/10.1002/humu.24353.  , 2022
Link: https://hdl.handle.net/2..
 
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