Zazo, Celia
37  Ergebnisse:
Personensuche X
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1

Detection of Hypomethylation Syndrome among Patients with E..:

Perez-Nanclares, Gustavo ; Romanelli, Valeria ; Mayo, Sonia...
The Journal of Clinical Endocrinology & Metabolism.  97 (2012)  6 - p. E1060-E1067 , 2012
 
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3

Gsα activity is reduced in erythrocyte membranes of patient..:

Zazo, Celia ; Thiele, Susanne ; Martín, Cesar...
Journal of Bone and Mineral Research.  26 (2011)  8 - p. 1864-1870 , 2011
 
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4

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, Richard J. ; Young, Rodrigo M. ; Crespo, Berta...
The American Journal of Human Genetics.  105 (2019)  3 - p. 640-657 , 2019
 
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6

The diagnostic yield of whole-exome sequencing targeting a ..:

Zazo Seco, Celia ; Wesdorp, Mieke ; Feenstra, Ilse...
European Journal of Human Genetics.  25 (2016)  3 - p. 308-314 , 2016
 
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7

Trends in genetic diagnostics of hereditary hearing loss: P..:

Pennings, Ronald ; Seco, Celia Zazo ; Wesdorp, Mieke...
The Journal of Laryngology & Otology.  130 (2016)  S3 - p. S27-S27 , 2016
 
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12

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, Richard J ; Young, Rodrigo M ; Crespo, Berta...
Holt , R J , Young , R M , Crespo , B , Ceroni , F , Curry , C J , Bellacchio , E , Bax , D A , Ciolfi , A , Simon , M , Fagerberg , C R , van Binsbergen , E , De Luca , A , Memo , L , Dobyns , W B , Mohammed , A A , Clokie , S J H , Zazo Seco , C , Jiang , Y H , Sørensen , K P , Andersen , H , Sullivan , J , Powis , Z , Chassevent , A , Smith-Hicks , C , Petrovski , S , Antoniadi , T , Shashi , V , Gelb , B D , Wilson , S W , Gerrelli , D , Tartaglia , M , Chassaing , N , Calvas , P & Ragge , N K 2019 , ' De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies ' , American Journal of Human Genetics , vol. 105 , no. 3 , pp. 640-657 . https://doi.org/10.1016/j.ajhg.2019.07.005.  , 2019
 
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13

De Novo Missense Variants in FBXW11 Cause Diverse Developme..:

Holt, Richard, J ; Young, Rodrigo, M ; Crespo, Berta...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.07.005.  , 2019
 
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14

Expanding the phenotype of the X-linked BCOR microphthalmia..:

Ragge, Nicola ; Isidor, Bertrand ; Bitoun, Pierre...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1896-x.  , 2019
 
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15

Expanding the phenotype of the X-linked BCOR microphthalmia..:

Ragge, Nicola ; Isidor, Bertrand ; Bitoun, Pierre...
info:eu-repo/semantics/altIdentifier/doi/10.1007/s00439-018-1896-x.  , 2019
 
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