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Barbaro-Dieber, T
14  results:
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1

Primrose syndrome: Characterization of the phenotype in 42 ..:

Melis, D ; Carvalho, D ; Barbaro-Dieber, T...
Melis , D , Carvalho , D , Barbaro-Dieber , T , Espay , AJ , Gambello , MJ , Gener , B , Gerkes , E , Hitzert , MM , Hove , HB , Jansen , S , Jira , PE , Lachlan , K , Menke , LA , Narayanan , V , Ortiz , D , Overwater , E , Posmyk , R , Ramsey , K , de Rossi , A , Sandoval , RL , Stumpel , C , Stuurman , K , Cordeddu , V , Turnpenny , P , Strisciuglio , P , Tartaglia , M , Unger , S , Waters , T , Turnbull , C & Hennekam , RC 2020 , ' Primrose syndrome: Characterization of the phenotype in 42 patients ' , Clinical Genetics , vol. 97 , no. 6 , pp. 890-901 . https://doi.org/10.1111/cge.13749.  , 2020
Link: https://pure.eur.nl/en/p..
 
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2

Primrose syndrome: Characterization of the phenotype in 42 ..:

Melis, D ; Carvalho, D ; Barbaro-Dieber, T...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.13749.  , 2020
Link: https://serval.unil.ch/n..
 
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3

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, E ; Hervieu, A ; Kaserer, T...
Calpena , E , Hervieu , A , Kaserer , T , Swagemakers , S , Goos , J , Popoola , O , Ortiz-Ruiz , MJ , Barbaro-Dieber , T , Bownass , L , Brilstra , EH , Brimble , E , Foulds , N , Grebe , TA , Harder , AVE , Lees , MM , Monaghan , K G , Newbury-Ecob , RA , Ong , KR , Osio , D , Santos , FJR , Ruzhnikov , MRZ , Telegrafi , A , van Binsbergen , E , van Dooren , M , van der Spek , P , Blagg , J , Twigg , SRF , Mathijssen , I , Clarke , PA & Wilkie , AOM 2019 , ' De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder ' , American Journal of Human Genetics , vol. 104 , no. 4 , pp. 709-720 . https://doi.org/10.1016/j.ajhg.2019.02.006.  , 2019
Link: https://pure.eur.nl/en/p..
 
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4

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, E ; Hervieu, A ; Kaserer, T...
American journal of human genetics, 2019, 104 (4), pp. 709 - 720.  , 2019
Link: https://repository.icr.a..
 
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5

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, E ; Hervieu, A ; Kaserer, T...
http://repub.eur.nl/pub/116335.  , 2019
Link: http://repub.eur.nl/pub/..
 
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6

Expansion and further delineation of the SETD5 phenotype le..:

Powis, Z ; Farwell Hagman, K. D ; Mroske, C...
info:eu-repo/semantics/altIdentifier/pmid/28881385.  , 2018
Link: http://hdl.handle.net/11..
 
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7

Primrose syndrome: Characterization of the phenotype in 42 ..:

Melis, D.A.M. (Danielle) ; Carvalho, D. (Daniel) ; Barbaro-Dieber, T. (Tina)...
http://repub.eur.nl/pub/126470.  , 2020
Link: http://repub.eur.nl/pub/..
 
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8

Expansion and further delineation of the SETD5 phenotype le..:

Z. Powis ; K.D. Farwell Hagman ; C. Mroske...
url:https://www.openaccessrepository.it/communities/itmirror.  , 2018
Link: https://www.openaccessre..
 
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9

De novo variants in EBF3 are associated with hypotonia, dev..:

Tanaka, Akemi J ; Cho, Megan T ; Willaert, Rebecca...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701309/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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10

De Novo Missense Substitutions in the Gene Encoding CDK8, a..:

Calpena, Eduardo ; Hervieu, Alexia ; Kaserer, Teresa...
The American Journal of Human Genetics.  104 (2019)  4 - p. 709-720 , 2019
Link: https://doi.org/10.1016/..
 
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11

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizur..:

Lalani, Seema R. ; Zhang, Jing ; Schaaf, Christian P....
The American Journal of Human Genetics.  95 (2014)  5 - p. 579-583 , 2014
Link: https://doi.org/10.1016/..
 
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12

Alterations in metabolic patterns have a key role in diagno..:

Casertano, Alberto ; Fontana, Paolo ; Hennekam, Raoul C....
American Journal of Medical Genetics Part A.  173 (2017)  7 - p. 1896-1902 , 2017
Link: https://doi.org/10.1002/..
 
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13

Endothelin-1 Stimulates Proliferation of First-Trimester Tr..:

Cervar-Zivkovic, M. ; Dieber-Rotheneder, M. ; Barth, S....
The Journal of Clinical Endocrinology & Metabolism.  96 (2011)  11 - p. 3408-3415 , 2011
Link: https://doi.org/10.1210/..
 
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14

Interdisziplinäres Positionspapier "Perioperatives Schmerzm..:

Likar, R. ; Jaksch, W. ; Aigmüller, T....
Der Schmerz.  31 (2017)  5 - p. 463-482 , 2017
Link: https://doi.org/10.1007/..
 
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