Vial, Yoann
40  results:
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2

Expanding the molecular spectrum of pathogenic SHOC2 varian..:

Motta, Marialetizia ; Solman, Maja ; Bonnard, Adeline A...
Motta , M , Solman , M , Bonnard , A A , Kuechler , A , Pantaleoni , F , Priolo , M , Chandramouli , B , Coppola , S , Pizzi , S , Zara , E , Ferilli , M , Kayserili , H , Onesimo , R , Leoni , C , Brinkmann , J , Vial , Y , Kamphausen , S B , Thomas-Teinturier , C , Guimier , A , Cordeddu , V , Mazzanti , L , Zampino , G , Chillemi , G , Zenker , M , Cavé , H , den Hertog , J & Tartaglia , M 2022 , ' Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome ' , Human Molecular Genetics , vol. 31 , no. 16 , pp. 2766-2778 . https://doi.org/10.1093/hmg/ddac071.  , 2022
 
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5

Cherubism as a systemic skeletal disease: evidence from an ..:

Morice, Anne ; Joly, Aline ; Ricquebourg, Manon...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12891-020-03580-z.  , 2020
 
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6

Cherubism as a systemic skeletal disease: evidence from an ..:

Morice, Anne ; Joly, Aline ; Ricquebourg, Manon...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12891-020-03580-z.  , 2020
 
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7

Cherubism as a systemic skeletal disease: evidence from an ..:

Morice, Anne ; Joly, Aline ; Ricquebourg, Manon...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12891-020-03580-z.  , 2020
 
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8

Cherubism as a systemic skeletal disease: evidence from an ..:

Morice, Anne ; Joly, Aline ; Ricquebourg, Manon...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12891-020-03580-z.  , 2020
 
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10

Cherubism as a systemic skeletal disease: evidence from an ..:

Morice, Anne ; Joly, Aline ; Ricquebourg, Manon...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12891-020-03580-z.  , 2020
 
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12

VPS51 biallelic variants cause microcephaly with brain malf..:

Uwineza, Annette ; Caberg, Jean-Hubert ; Hitayezu, Janvier...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103704.  , 2019
 
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13

Phenotypic spectrum associated with SPECC1L pathogenic vari..:

Bhoj, Elizabeth J ; Haye, Damien ; Toutain, Annick...
https://vbn.aau.dk/da/publications/2c94e808-b513-4451-a0b8-616eadd68934.  , 2019
 
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15

VPS51 biallelic variants cause microcephaly with brain malf..:

Uwineza, Annette ; Caberg, Jean-Hubert ; Hitayezu, Janvier...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ejmg.2019.103704.  , 2019
 
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