Au, Katharina
17  results:
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1

Retrospective pediatric cohort study validates NEOS score a..:

Nikolaus, Marc ; Rausch, Philipp ; Rostásy, Kevin...
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/104740.  , 2023
 
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Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4.  , 2023
 
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Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
https://research.manchester.ac.uk/en/publications/064bf450-6a7b-4d0d-8439-cb8af9828bf7.  , 2023
 
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10

Mechanism of KMT5B haploinsufficiency in neurodevelopment i..:

Sheppard, Sarah E ; Bryant, Laura ; Wickramasekara, Rochelle N...
https://pure.eur.nl/en/publications/6d222e2f-b72e-4d41-98ba-7a6d43099fa4.  , 2023
 
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11

SPEN haploinsufficiency causes a neurodevelopmental disorde..:

Radio, Francesca Clementina ; Pang, Kaifang ; Ciolfi, Andrea...
https://pure.eur.nl/en/publications/6c5a2968-0de0-4074-8849-a2d72291e184.  , 2021
 
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12

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, Ilaria ; Lehalle, Daphné ; Nava, Caroline...
Parenti , I , Lehalle , D , Nava , C , Torti , E , Leitão , E , Person , R , Mizuguchi , T , Matsumoto , N , Kato , M , Nakamura , K , de Man , S A , Cope , H , Shashi , V , Undiagnosed Diseases Network , Friedman , J , Joset , P , Steindl , K , Rauch , A , Muffels , I , van Hasselt , P M , Petit , F , Smol , T , Le Guyader , G , Bilan , F , Sorlin , A , Vitobello , A , Philippe , C , van de Laar , I M B H , van Slegtenhorst , M A , Campeau , P M , Au , P Y B , Nakashima , M , Saitsu , H , Yamamoto , T , Nomura , Y , Louie , R J , Lyons , M J , Dobson , A , Plomp , A S , Motazacker , M M , Kaiser , F J , Timberlake , A T , Fuchs , S A , Depienne , C & Mignot , C 2021 , ' Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy ' , Human Genetics , vol. 140 , no. 7 , pp. 1109-1120 . https://doi.org/10.1007/s00439-021-02283-2.  , 2021
 
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14

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, Ilaria ; Lehalle, Daphné ; Nava, Caroline...
https://pure.eur.nl/en/publications/0da33303-076a-4046-a377-6972a07c2a89.  , 2021
 
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