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Fares‐Taïe, L.
42  results:
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1

Implication of non-coding PAX6 mutations in aniridia:

Plaisancié, Julie ; Tarilonte, M. ; Ramos, P....
Human Genetics.  137 (2018)  10 - p. 831-846 , 2018
Link: https://doi.org/10.1007/..
 
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2

Genetics in microphthalmia:

Calvas, P. ; Davis, E. ; Ragge, N....
Acta Ophthalmologica.  94 (2016)  S256 - p. , 2016
Link: https://doi.org/10.1111/..
 
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3

Specific gene in microphthalmia:

Rozet, J.M. ; Fares‐Taïe, L. ; Chassaing, N....
Acta Ophthalmologica.  94 (2016)  S256 - p. , 2016
Link: https://doi.org/10.1111/..
 
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4

Ciliopathy patient variants reveal organelle-specific funct..:

Dodd, Daniel O. ; Mechaussier, Sabrina ; Yeyati, Patricia L....
Science.  384 (2024)  6694 - p. , 2024
Link: https://doi.org/10.1126/..
 
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5

Structural Variant Disrupting the Expression of the Remote ..:

Plaisancié, Julie ; Chesneau, Bertrand ; Fares-Taie, Lucas...
International Journal of Molecular Sciences.  25 (2024)  5 - p. 2669 , 2024
Link: https://doi.org/10.3390/..
 
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6

ITPR1: The missing gene in miosis–ataxia syndrome?:

Chesneau, Bertrand ; Calvas, Patrick ; Cassagne, Myriam...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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7

PCDH12 loss results in premature neuronal differentiation a..:

Rakotomamonjy, Jennifer ; Rylaarsdam, Lauren ; Fares-Taie, Lucas...
Cell Reports.  42 (2023)  8 - p. 112845 , 2023
Link: https://doi.org/10.1016/..
 
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8

First evidence of SOX2 mutations in Peters' anomaly: Lesson..:

Chesneau, Bertrand ; Aubert‐Mucca, Marion ; Fremont, Félix...
Clinical Genetics.  101 (2022)  5-6 - p. 494-506 , 2022
Link: https://doi.org/10.1111/..
 
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9

Expanding the KIF4A‐associated phenotype:

Kalantari, Silvia ; Carlston, Colleen ; Alsaleh, Norah...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3728-3739 , 2021
Link: https://doi.org/10.1002/..
 
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10

Incomplete penetrance of biallelic ALDH1A3 mutations:

Plaisancié, Julie ; Brémond-Gignac, Dominique ; Demeer, Bénédicte...
European Journal of Medical Genetics.  59 (2016)  4 - p. 215-218 , 2016
Link: https://doi.org/10.1016/..
 
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11

TMEM126A is a mitochondrial located mRNA (MLR) protein of t..:

Hanein, Sylvain ; Garcia, Mathilde ; Fares-Taie, Lucas...
Biochimica et Biophysica Acta (BBA) - General Subjects.  1830 (2013)  6 - p. 3719-3733 , 2013
Link: https://doi.org/10.1016/..
 
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12

Mutations in NMNAT1 cause Leber congenital amaurosis with e..:

Perrault, Isabelle ; Hanein, Sylvain ; Zanlonghi, Xavier...
Nature Genetics.  44 (2012)  9 - p. 975-977 , 2012
Link: https://doi.org/10.1038/..
 
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13

Spectrum ofSPATA7mutations in Leber congenital amaurosis an..:

Perrault, Isabelle ; Hanein, Sylvain ; Gerard, Xavier...
Human Mutation.  31 (2010)  3 - p. E1241-E1250 , 2010
Link: https://doi.org/10.1002/..
 
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14

PCDH12 loss results in premature neuronal differentiation a..:

Rakotomamonjy, Jennifer ; Rylaarsdam, Lauren ; Fares-Taie, Lucas...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521973/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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15

First evidence of SOX2 mutations in Peters' anomaly: Lesson..:

Chesneau, Bertrand ; Aubert-Mucca, Marion ; Fremont, Felix...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14123.  , 2022
Link: https://hal.science/hal-..
 
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