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X
St‐Onge, Judith
87  Ergebnisse:
Personensuche X
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1

Defining the Genetic Landscape of Congenital Mirror Movemen..:

Collins Hutchinson, Meagan L. ; St‐Onge, Judith ; Schlienger, Sabrina...
Movement Disorders.  39 (2024)  2 - p. 400-410 , 2024
Link: https://doi.org/10.1002/..
 
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2

Biallelic SCN10A mutations in neuromuscular disease and epi..:

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane...
Annals of Clinical and Translational Neurology.  4 (2016)  1 - p. 26-35 , 2016
Link: https://doi.org/10.1002/..
 
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3

Application of whole‐exome sequencing to unravel the molecu..:

Gauthier‐Vasserot, Alexandra ; Thauvin‐Robinet, Christel ; Bruel, Ange‐Line...
American Journal of Medical Genetics Part A.  173 (2016)  1 - p. 62-71 , 2016
Link: https://doi.org/10.1002/..
 
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4

Compound heterozygous PKHD1 variants cause a wide spectrum ..:

Courcet, Jean‐Benoît ; Minello, Anne ; Prieur, Fabienne...
American Journal of Medical Genetics Part A.  167 (2015)  12 - p. 3046-3053 , 2015
Link: https://doi.org/10.1002/..
 
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5

Congenital neutropenia with retinopathy, a new phenotype wi..:

Gueneau, Lucie ; Duplomb, Laurence ; Sarda, Pierre...
American Journal of Medical Genetics Part A.  164 (2013)  2 - p. 522-527 , 2013
Link: https://doi.org/10.1002/..
 
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6

Autosomal‐dominant locus for restless legs syndrome in Fren..:

Levchenko, Anastasia ; Montplaisir, Jacques‐Yves ; Asselin, Géraldine...
Movement Disorders.  24 (2009)  1 - p. 40-50 , 2009
Link: https://doi.org/10.1002/..
 
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7

A Mutation that Creates a Pseudoexon in SOD1 Causes Familia..:

Valdmanis, Paul N. ; Belzil, Veronique V. ; Lee, James...
Annals of Human Genetics.  73 (2009)  6 - p. 652-657 , 2009
Link: https://doi.org/10.1111/..
 
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8

Novel de novo SHANK3 mutation in autistic patients:

Gauthier, Julie ; Spiegelman, Dan ; Piton, Amélie...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  150B (2008)  3 - p. 421-424 , 2008
Link: https://doi.org/10.1002/..
 
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9

Molecular genetic studies ofDMT1on 12q in French‐Canadian r..:

Xiong, Lan ; Dion, Patrick ; Montplaisir, Jacques...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  144B (2007)  7 - p. 911-917 , 2007
Link: https://doi.org/10.1002/..
 
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10

NLGN3/NLGN4 gene mutations are not responsible for autism i..:

Gauthier, Julie ; Bonnel, Anna ; St‐Onge, Judith...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  132B (2004)  1 - p. 74-75 , 2004
Link: https://doi.org/10.1002/..
 
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11

The 14q restless legs syndrome locus in the French Canadian..:

Levchenko, Anastasia ; Montplaisir, Jacques‐Yves ; Dubé, Marie‐Pierre...
Annals of Neurology.  55 (2004)  6 - p. 887-891 , 2004
Link: https://doi.org/10.1002/..
 
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12

Twins with psychiatric features and a nonsense HRAS variant..:

Accogli, Andrea ; Collins Hutchinson, Meagan L. ; Krochmalnek, Eric...
Psychiatry Research Case Reports.  2 (2023)  2 - p. 100189 , 2023
Link: https://doi.org/10.1016/..
 
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13

Author Correction: Postzygotic inactivating mutations of RH..:

Vabres, Pierre ; Sorlin, Arthur ; Kholmanskikh, Stanislav S....
Nature Genetics.  52 (2020)  3 - p. 353-353 , 2020
Link: https://doi.org/10.1038/..
 
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14

Severe DNM1 encephalopathy with dysmyelination due to recur..:

Sahly, Ahmed N. ; Krochmalnek, Eric ; St-Onge, Judith..
Human Genetics.  139 (2020)  12 - p. 1575-1578 , 2020
Link: https://doi.org/10.1007/..
 
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15

Postzygotic inactivating mutations of RHOA cause a mosaic n..:

Vabres, Pierre ; Sorlin, Arthur ; Kholmanskikh, Stanislav S....
Nature Genetics.  51 (2019)  10 - p. 1438-1441 , 2019
Link: https://doi.org/10.1038/..
 
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