Sedlacek, Zdenek
86  Ergebnisse:
Personensuche X
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1

Disruption of OVOL2 Distal Regulatory Elements as a Possibl..:

Dudakova, Lubica ; Noskova, Lenka ; Kmoch, Stanislav...
https://discovery.ucl.ac.uk/id/eprint/10185595/1/Davidson_Disruption%20of%20OVOL2%20Distal%20Regulatory%20Elements%20as%20a%20Possible%20Mechanism%20Implicated%20in%20Corneal%20Endothelial%20Dystrophy_VoR.pdf.  , 2024
 
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2

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
 
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4

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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6

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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7

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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8

Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:

Chowdhury, Fuad ; Wang, Lei ; Al-Raqad, Mohammed...
https://research.rug.nl/en/publications/8b645f00-a2db-4806-8c67-fe341888ac0d.  , 2021
 
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9

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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10

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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11

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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12

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
Jeanne , M , Demory , H , Moutal , A , Vuillaume , M L , Blesson , S , Thépault , R A , Marouillat , S , Halewa , J , Maas , S M , Motazacker , M M , Mancini , G M S , van Slegtenhorst , M A , Andreou , A , Cox , H , Vogt , J , Laufman , J , Kostandyan , N , Babikyan , D , Hancarova , M , Bendova , S , Sedlacek , Z , Aldinger , K A , Sherr , E H , Argilli , E , England , E M , Audebert-Bellanger , S , Bonneau , D , Colin , E , Denommé-Pichon , A S , Gilbert-Dussardier , B , Isidor , B , Küry , S , Odent , S , Redon , R , Khanna , R , Dobyns , W B , Bézieau , S , Honnorat , J , Lohkamp , B , Toutain , A & Laumonnier , F 2021 , ' Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities ' , American Journal of Human Genetics , vol. 108 , no. 5 , pp. 951-961 . https://doi.org/10.1016/j.ajhg.2021.04.004.  , 2021
 
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13

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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14

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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15

Missense variants in DPYSL5 cause a neurodevelopmental diso..:

Jeanne, Médéric ; Demory, Hélène ; Moutal, Aubin...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.04.004.  , 2021
 
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