Mañé, MC
14  Ergebnisse:
Personensuche X
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2

Microarray analysis of gene expression in bronchioalveolar ..:

Huang, S-K ; Li, XD ; Liu, MC...
Journal of Allergy and Clinical Immunology.  109 (2002)  1 - p. S82-S82 , 2002
 
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4

Bi-allelic variants in SPATA5L1 lead to intellectual disabi..:

Richard, EM ; Bakhtiari, S ; Marsh, APL...
https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf.  , 2021
 
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5

Mutations disrupting neuritogenesis genes confer risk for c..:

Jin, SC ; Lewis, SA ; Bakhtiari, S...
https://discovery.ucl.ac.uk/id/eprint/10111345/3/Shozeb_CP%20Genomics%20RESUBMISSION_FINAL.pdf.  , 2020
 
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6

Exome Sequencing Implicates Impaired GABA Signaling and Neu..:

Dong, W ; Jin, SC ; Allocco, A...
https://discovery.ucl.ac.uk/id/eprint/10112758/1/1-s2.0-S2589004220307446-main.pdf.  , 2020
 
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7

Exome sequencing implicates genetic disruption of prenatal ..:

Jin, SC ; Dong, W ; Kundishora, AJ...
https://discovery.ucl.ac.uk/id/eprint/10113597/1/258248_0_art_file_4643678_q5x551_convrt.pdf.  , 2020
 
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10

Homologous recombination DNA repair defects in PALB2-associ..:

Li, Anqi ; Mane, G ; Marsh, D...
NHMRC.1029974 http://purl.org/au-research/grants/nhmrc/1029974.  , 2019
 
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11

Contribution of rare inherited and de novo variants in 2,87..:

Jin, SC ; Homsy, J ; Zaidi, S...
https://discovery.ucl.ac.uk/id/eprint/10022733/1/Jin%20WES3%20text%20main%20figs.pdf.  , 2017
 
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12

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-D..:

Madeo, M ; Stewart, M ; Sun, Y...
https://discovery.ucl.ac.uk/id/eprint/1498362/1/Madeo_Loss-of-Function_Mutations_AAM.pdf.  , 2016
 
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