Motta, Marialetizia
38  Ergebnisse:
Personensuche X
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3

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1909-1922 , 2022
 
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6

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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7

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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8

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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9

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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10

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
Thomas , Q , Motta , M , Gautier , T , Zaki , M S , Ciolfi , A , Paccaud , J , Girodon , F , Boespflug-Tanguy , O , Besnard , T , Kerkhof , J , McConkey , H , Masson , A , Denommé-Pichon , A-S , Cogné , B , Trochu , E , Vignard , V , El It , F , Rodan , L H , Alkhateeb , M A , Jamra , R A , Duplomb , L , Tisserant , E , Duffourd , Y , Bruel , A-L , Jackson , A , Banka , S , McEntagart , M , Saggar , A , Gleeson , J G , Sievert , D , Bae , H , Lee , B H , Kwon , K , Seo , G H , Lee , H , Saeed , A , Anjum , N , Cheema , H , Alawbathani , S , Pinto-Basto , J , Teoh , J , Wong , J , Sahari , U B M , Houlden , H , Zhelcheska , K , Pannetier , M , Awad , M A , Lesieur-Sebellin , M , Barcia , G , Amiel , J , Delanne , J , Philippe , C , Faivre , L , Odent , S , Bertoli-Avella , A , Thauvin , C , Sadikovic , B , Reversade , B , Maroofian , R , Govin , J , Tartaglia , M & Vitobello , A 2022 , ' Bi-allelic loss-of-function variants in TMEM147 cause moderate to profoun....  , 2022
 
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11

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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12

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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13

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2022.08.008.  , 2022
 
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14

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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