Meyer, Esther
384  results:
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1

The Genetic Landscape of Complex Childhood-Onset Hyperkinet..:

Perez-Duenas, Belen ; Gorman, Kathleen ; Marce-Grau, Anna...
https://discovery.ucl.ac.uk/id/eprint/10162241/1/Movement%20Disorders2022PrezDue%20asThe%20Genetic%20Landscape%20of%20Complex%20ChildhoodOnset%20Hyperkinetic%20Movement%20Disorders.pdf.  , 2022
 
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3

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelop..:

Reid, Kimberly M ; Spaull, Robert ; Salian, Smrithi...
https://publications.aston.ac.uk/id/eprint/45864/1/Movement_Disorders_-_2022_-_Reid_-_MED27_SLC6A7_and_MPPE1_Variants_in_a_Complex_Neurodevelopmental_Disorder_with_Severe.pdf.  , 2022
 
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6

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelop..:

Reid, Kimberley M ; Spaull, Robert ; Salian, Smrithi...
Reid , K M , Spaull , R , Salian , S , Barwick , K , Meyer , E , Zhen , J , Hirata , H , Sheipouri , D , Benkerroum , H , Gorman , K M , Papandreou , A , Simpson , M A , Hirano , Y , Farabella , I , Topf , M , Grozeva , D , Carss , K , Smith , M , Pall , H , Lunt , P , Gressi , S D , Kamsteeg , EJ , Haack , T B , Carr , L , Guerreiro , R , Bras , J , Maher , E R , Scott , R H , Vandenberg , R J , Raymond , F L , Chong , W K , Sudhakar , S , Mankad , K , Reith , M E , Campeau , P M , Harvey , R J & Kurian , M A 2022 , ' MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia ' , Movement Disorders , vol. 37 , no. 10 , pp. 2139-2146 . https://doi.org/10.1002/mds.29147.  , 2022
 
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7

In search of transdisciplinarity: problems of sustainabilit..:

Meyer, Esther
http://pub-data.leuphana.de/frontdoor/index/index/docId/1102.  , 2021
 
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8

KMT2B -related disorders:expansion of the phenotypic spectr..:

Cif, Laura ; Demailly, Diane ; Lin, Jean Pierre...
https://pure.au.dk/portal/en/publications/9ecb64d1-d9c5-4e2e-9334-4f052717eb35.  , 2020
 
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10

Economistic discourses of sustainability: determining momen..:

Meyer, Esther ; Vilsmaier, Ulli
https://periodicos.unb.br/index.php/sust/article/view/26663/25966.  , 2020
 
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11

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressiv..:

Gorman, Kathleen M ; Meyer, Esther ; Grozeva, Detelina...
Gorman , K M , Meyer , E , Grozeva , D , Spinelli , E , McTague , A , Sanchis-Juan , A , Carss , K J , Bryant , E , Reich , A , Schneider , A L , Pressler , R M , Simpson , M A , Debelle , G D , Wassmer , E , Morton , J , Sieciechowicz , D , Jan-Kamsteeg , E , Paciorkowski , A R , King , M D , Cross , J H , Poduri , A , Mefford , H C , Scheffer , I E , Haack , T B , McCullagh , G , Deciphering Developmental Disorders Study , NIHR BioResource , UK10K Consortium , Millichap , J J , Carvill , G L , Clayton-Smith , J , Maher , E R , Raymond , F L & Kurian , M A 2019 , ' Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia ' , American journal of human genetics , vol. 104 , no. 5 , pp. 948-956 . https://doi.org/10.1016/j.ajhg.2019.03.005.  , 2019
 
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Mutations in the histone methyltransferase gene KMT2B cause..:

Meyer, Esther ; Carss, Keren J ; Rankin, Julia...
Meyer , E , Carss , K J , Rankin , J , Nichols , J M E , Grozeva , D , Joseph , A P , Mencacci , N E , Papandreou , A , Ng , J , Barra , S , Ngoh , A , Ben-Pazi , H , Willemsen , M A , Arkadir , D , Barnicoat , A , Bergman , H , Bhate , S , Boys , A , Darin , N , Foulds , N , Gutowski , N , Hills , A , Houlden , H , Hurst , J A , Israe , Z , Kaminska , M , Limousin , P , Lumsden , D , Mckee , S , Misra , S , Mohammed , S S , Nakou , V , Nicolai , J , Nilsson , M , Pall , H , Peall , K J , Peters , G B , Prabhakar , P , Reuter , M S , Rump , P , Sege , R , Sinnema , M , Smith , M , Turnpenny , P , White , S M , Wieczorek , D , Wiethoff , S , Wilson , B T , Winter , G , Wragg , C , UK10K Consortium , Deciphering Dev Disorders Study , NIHR BioResource Rare & Kurian , M 2017 , ' Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia ' , Nature Genetics , vol. 49 , no. 2 , pp. 223-237 . https://doi.org/10.1038/ng.3740.  , 2017
 
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