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Desmyter, Laurence
25  results:
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1

POT1 tumour predisposition: a broader spectrum of associate..:

Baptista Freitas, Marta ; Desmyter, Laurence ; Badoer, Cindy...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

Early-Onset Autosomal Dominant Myopathy with Vacuolated Fib..:

Bisciglia, Michela ; Kadhim, Hazim ; Lecomte, Sophie...
Journal of Neuromuscular Diseases.  11 (2024)  4 - p. 871-875 , 2024
Link: https://doi.org/10.3233/..
 
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3

Comprehensive evaluation of the implementation of episignat..:

Giuili, Edoardo ; Grolaux, Robin ; Macedo, Catarina Z. N. M....
Human Genetics.  142 (2023)  12 - p. 1721-1735 , 2023
Link: https://doi.org/10.1007/..
 
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4

Ehlers‐Danlos/myopathy overlap syndrome caused by a large d..:

Coppens, Sandra ; Desmyter, Laurence ; Koch, Manuel...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1556-1561 , 2022
Link: https://doi.org/10.1002/..
 
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5

SPG43 and ALS-like syndrome in the same family due to compo..:

Remiche, Gauthier ; Vandernoot, Isabelle ; Sadeghi-Meibodi, Niloufar.
neurogenetics.  22 (2021)  1 - p. 95-101 , 2021
Link: https://doi.org/10.1007/..
 
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6

Prevalence and clinical impact of tumor BRCA1 and BRCA2 mut..:

Martinez Chanza, Nieves ; Bernard, Brandon ; Barthelemy, Philippe...
Prostate Cancer and Prostatic Diseases.  25 (2021)  2 - p. 199-207 , 2021
Link: https://doi.org/10.1038/..
 
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7

Unusual phenotypical findings in two unrelated Belgian pati..:

Remiche, Gauthier ; Nortier, Joëlle ; Vandernoot, Isabelle...
Neurology.  96 (2021)  15_supplement - p. , 2021
Link: https://doi.org/10.1212/..
 
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8

Corpus callosum thinning in autosomal dominant hereditary s..:

Lamartine S. Monteiro, Marta ; Vandernoot, Isabelle ; Desmyter, Laurence...
Clinical Genetics.  98 (2020)  4 - p. 416-417 , 2020
Link: https://doi.org/10.1111/..
 
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9

Digenic inheritance of human primary microcephaly delineate..:

Duerinckx, Sarah ; Jacquemin, Valérie ; Drunat, Séverine...
Human Mutation.  41 (2019)  2 - p. 512-524 , 2019
Link: https://doi.org/10.1002/..
 
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10

Phenotypes in siblings with homozygous mutations of TRAPPC9..:

Duerinckx, Sarah ; Meuwissen, Marije ; Perazzolo, Camille...
Molecular Genetics & Genomic Medicine.  6 (2018)  4 - p. 660-665 , 2018
Link: https://doi.org/10.1002/..
 
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11

Severe congenital microcephaly with AP4M1 mutation, a case ..:

Duerinckx, Sarah ; Verhelst, Helene ; Perazzolo, Camille...
BMC Medical Genetics.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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12

FAF1, a Gene that Is Disrupted in Cleft Palate and Has Cons..:

Ghassibe-Sabbagh, Michella ; Desmyter, Laurence ; Langenberg, Tobias...
The American Journal of Human Genetics.  88 (2011)  2 - p. 150-161 , 2011
Link: https://doi.org/10.1016/..
 
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13

Comprehensive evaluation of the implementation of episignat..:

Giuili, Edoardo ; Grolaux, Robin ; Macedo, Catarina Z N M CZNM...
uri/info:doi/10.1007/s00439-023-02609-2.  , 2023
Link: http://hdl.handle.net/20..
 
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14

Ehlers‐Danlos /myopathy overlap syndrome caused by a large ..:

Coppens, Sandra ; Desmyter, Laurence ; Koch, Manuel...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62653.  , 2022
Link: https://univ-angers.hal...
 
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15

Ehlers‐Danlos /myopathy overlap syndrome caused by a large ..:

Coppens, Sandra ; Desmyter, Laurence ; Koch, Manuel...
info:eu-repo/semantics/altIdentifier/doi/10.1002/ajmg.a.62653.  , 2022
Link: https://univ-angers.hal...
 
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