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Fastré, Elodie
38  Ergebnisse:
Personensuche X
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1

Pathogenic variants in HGF give rise to childhood-to-late o..:

Alpaslan, Murat ; Fastré, Elodie ; Mestre, Sandrine...
Human Molecular Genetics.  , 2024
Link: https://doi.org/10.1093/..
 
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2

Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of..:

Coulie, Richard ; Niyazov, Dmitriy M. ; Gambello, Michael J....
American Journal of Medical Genetics Part A.  185 (2021)  7 - p. 2153-2159 , 2021
Link: https://doi.org/10.1002/..
 
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3

Comparison of the mutation spectrum and association with pr..:

Futema, Marta ; Ramaswami, Uma ; Tichy, Lukas...
Atherosclerosis.  319 (2021)  - p. 108-117 , 2021
Link: https://doi.org/10.1016/..
 
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4

Non-hotspot PIK3CA mutations are more frequent in CLOVES th..:

Brouillard, Pascal ; Schlögel, Matthieu J. ; Homayun Sepehr, Nassim...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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5

Frequency of Participation in External Quality Assessment P..:

Lantoine, Joséphine ; Brysse, Anne ; Dideberg, Vinciane...
JMIR Medical Informatics.  9 (2021)  7 - p. e27980 , 2021
Link: https://doi.org/10.2196/..
 
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6

No evidence of locus heterogeneity in familial microcephaly..:

Schlögel, Matthieu J ; Mendola, Antonella ; Fastré, Elodie...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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7

Non-hotspot PIK3CA mutations are more frequent in CLOVES th..:

Brouillard, Pascal ; Schlögel, Matthieu J ; Homayun Sepehr, Nassim...
267.  , 2021
Link: https://trepo.tuni.fi/ha..
 
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8

Non-hotspot PIK3CA mutations are more frequent in CLOVES th..:

Brouillard, Pascal ; Schlögel, Matthieu ; Homayun Sepehr, Nassim...
boreal:248468.  , 2021
Link: http://hdl.handle.net/20..
 
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9

Frequency of Participation in External Quality Assessment P..:

Lantoine, Joséphine ; Brysse, Anne ; Dideberg, Vinciane...
boreal:264469.  , 2021
Link: http://hdl.handle.net/20..
 
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10

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of..:

Coulie, Richard ; Niyazov, Dmitriy M ; Gambello, Michael J...
boreal:248085.  , 2021
Link: http://hdl.handle.net/20..
 
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11

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of..:

Coulie, Richard ; Niyazov, Dmitriy M ; Gambello, Michael J...
boreal:248085.  , 2021
Link: http://hdl.handle.net/20..
 
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12

Comparison of the mutation spectrum and association with pr..:

Futema, Marta ; Ramaswami, Uma ; Tichy, Lukas...
boreal:261190.  , 2021
Link: http://hdl.handle.net/20..
 
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13

Frequency of Participation in External Quality Assessment P..:

Lantoine, Joséphine ; Brysse, Anne ; Dideberg, Vinciane...
boreal:264469.  , 2021
Link: http://hdl.handle.net/20..
 
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14

Comparison of the mutation spectrum and association with pr..:

Futema, Marta ; Ramaswami, Uma ; Tichy, Lukas...
boreal:261190.  , 2021
Link: http://hdl.handle.net/20..
 
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15

Non-hotspot PIK3CA mutations are more frequent in CLOVES th..:

Brouillard, Pascal ; Schlögel, Matthieu J ; Homayun Sepehr, Nassim...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8194016/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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