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Cacheiro P
49
results:
Search for persons
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Format
Online (49)
Mediatypes
Articles (Online) (20)
OpenAccess-fulltext (29)
Languages
english (44)
spanish (1)
Sorted by: Relevance
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?
1
Evaluating the Calling Performance of a Rare Disease NGS Pa..:
Cacheiro, P.
;
Ordóñez-Ugalde, A.
;
Quintáns, B.
...
Molecular Diagnosis & Therapy. 21 (2017) 3 - p. 303-313 , 2017
Link:
https://doi.org/10.1007/..
?
2
Medical genomics: The intricate path from genetic variant i..:
Quintáns, B.
;
Ordóñez-Ugalde, A.
;
Cacheiro, P.
..
Applied & Translational Genomics. 3 (2014) 3 - p. 60-67 , 2014
Link:
https://doi.org/10.1016/..
?
3
Genome-wide screening reveals the genetic basis of mammalia..:
Chee J. M
;
Lanoue L
;
Clary D
...
info:eu-repo/semantics/altIdentifier/pmid/36737727. , 2023
Link:
https://hdl.handle.net/1..
?
4
Mendelian gene identification through mouse embryo viabilit..:
Cacheiro, P
;
Westerberg, CH
;
Mager, J
...
medRxiv. , 2022
Link:
https://qmro.qmul.ac.uk/..
?
5
Knockout mice are an important tool for human monogenic hea..:
Cacheiro, P
;
Spielmann, N
;
Mashhadi, HH
...
DISEASE MODELS & MECHANISMS. , 2022
Link:
https://qmro.qmul.ac.uk/..
?
6
Mendelian gene identification through mouse embryo viabilit..:
Cacheiro, P
;
Westerberg, CH
;
Mager, J
...
Genome Med. , 2022
Link:
https://qmro.qmul.ac.uk/..
?
7
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
8
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
9
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
10
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
11
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
12
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
13
Prenatal phenotyping: A community effort to enhance the Hum..:
Dhombres, F
;
Morgan, P
;
Chaudhari, B. P
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.c.31989. , 2022
Link:
https://inserm.hal.scien..
?
14
Pathogenic SPTBN1 variants cause an autosomal dominant neur..:
Cousin, M.A
;
Creighton, B.A
;
Breau, K.A
...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41588-021-00886-z. , 2021
Link:
https://push-zb.helmholt..
?
15
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health C..:
100, 000 Genomes Project Pilot Investigators
;
Smedley, D
;
Smith, KR
...
https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf. , 2021
Link:
https://discovery.ucl.ac..
1-15