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Joubert, Madeleine
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1

Biallelic loss-of-function variants in CACHD1 cause a novel..:

Scala, Marcello ; Khan, Kamal ; Beneteau, Claire...
Genetics in Medicine.  26 (2024)  4 - p. 101057 , 2024
Link: https://doi.org/10.1016/..
 
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2

Androgenetic/biparental mosaicism in a diploid mole-like co..:

Donzel, Marie ; Gaillot-Durand, Lucie ; Joubert, Madeleine...
Virchows Archiv.  483 (2023)  5 - p. 709-715 , 2023
Link: https://doi.org/10.1007/..
 
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3

Perinatal presentations of non‐immune hydrops fetalis due t..:

Ghesh, Leïla ; Désir, Julie ; Haye, Damien...
Clinical Genetics.  103 (2022)  5 - p. 560-565 , 2022
Link: https://doi.org/10.1111/..
 
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4

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2958-2968 , 2022
Link: https://doi.org/10.1002/..
 
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5

Loss of FOCAD, operating via the SKI messenger RNA surveill..:

Moreno Traspas, Ricardo ; Teoh, Tze Shin ; Wong, Pui-Mun...
Nature Genetics.  54 (2022)  8 - p. 1214-1226 , 2022
Link: https://doi.org/10.1038/..
 
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6

A Gardos channelopathy associated with nonimmune hydrops an..:

Ghesh, Leïla ; Besnard, Thomas ; Joubert, Madeleine...
Clinical Genetics.  102 (2022)  6 - p. 543-547 , 2022
Link: https://doi.org/10.1111/..
 
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7

Novel interstitial 2q12.3q13 microdeletion predisposes to d..:

Huynh, Minh-Tuan ; Gérard, Marion ; Ranguin, Kara...
neurogenetics.  22 (2021)  3 - p. 195-206 , 2021
Link: https://doi.org/10.1007/..
 
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8

Structural abnormalities of chromosome 8 and fetoplacental ..:

Huynh, Minh-Tuan ; Riteau, Anne-Sophie ; Moradkhani, Kamran...
European Journal of Medical Genetics.  64 (2021)  1 - p. 104118 , 2021
Link: https://doi.org/10.1016/..
 
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9

Novel interstitial 2q12.3q13 microdeletion predisposes to d..:

Huynh, Minh-Tuan ; Beneteau, Claire ; Marion, Gerard...
Molecular Genetics and Metabolism.  132 (2021)  - p. S222-S224 , 2021
Link: https://doi.org/10.1016/..
 
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10

Syndrome microdélétionnel 12q21 : une région critique de 1,..:

Egloff, Matthieu ; Niclass, Tanguy ; Le Guyader, Gwenael...
Morphologie.  105 (2021)  350 - p. S15 , 2021
Link: https://doi.org/10.1016/..
 
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11

The first twonon‐FinnishHYLS1variants: Expanding the phenot..:

Ghesh, Leïla ; Musquer, Marie Denis ; Devisme, Louise...
Clinical Genetics.  100 (2021)  4 - p. 462-467 , 2021
Link: https://doi.org/10.1111/..
 
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12

12q21 deletion syndrome: Narrowing the critical region down..:

Niclass, Tanguy ; Le Guyader, Gwenael ; Beneteau, Claire...
American Journal of Medical Genetics Part A.  182 (2020)  9 - p. 2133-2138 , 2020
Link: https://doi.org/10.1002/..
 
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13

New splicing pathogenic variant in EBP causing extreme fami..:

Pacault, Mathilde ; Vincent, Marie ; Besnard, Thomas...
European Journal of Human Genetics.  26 (2018)  12 - p. 1784-1790 , 2018
Link: https://doi.org/10.1038/..
 
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14

Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ an..:

Cardalliac, Claire ; Vincent, Marie ; Joubert, Madeleine.
Journal of Ultrasound in Medicine.  37 (2017)  2 - p. 531-534 , 2017
Link: https://doi.org/10.1002/..
 
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15

Two novel variants in CNTNAP1 in two siblings presenting wi..:

Nizon, Mathilde ; Cogne, Benjamin ; Vallat, Jean-Michel...
European Journal of Human Genetics.  25 (2016)  1 - p. 150-152 , 2016
Link: https://doi.org/10.1038/..
 
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