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Bisgaard, Anne‐Marie
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1

Psychological aspects of being a parent of an individual wi..:

Larsen, Jane Lunding ; Hansson, Helena ; Bisgaard, Anne‐Marie.
Journal of Applied Research in Intellectual Disabilities.  37 (2024)  2 - p. , 2024
Link: https://doi.org/10.1111/..
 
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2

SMC1A epilepsy syndrome: clinical data from a large interna..:

Gibellato, Elisabetta ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
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3

Deep phenotyping of the neuroimaging and skeletal features ..:

Peluso, Francesca ; Caraffi, Stefano G ; Contrò, Gianluca...
Journal of Medical Genetics.  60 (2023)  12 - p. 1224-1234 , 2023
Link: https://doi.org/10.1136/..
 
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4

Decline in gross motor skills in adult Rett syndrome; resul..:

Bisgaard, Anne‐Marie ; Wong, Kingsley ; Højfeldt, Anne‐Katrine...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3683-3693 , 2021
Link: https://doi.org/10.1002/..
 
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5

DLG4-related synaptopathy: a new rare brain disorder:

Rodríguez-Palmero, Agustí ; Boerrigter, Melissa Maria ; Gómez-Andrés, David...
Genetics in Medicine.  23 (2021)  5 - p. 888-899 , 2021
Link: https://doi.org/10.1038/..
 
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6

Delineation of phenotypes and genotypes related to cohesin ..:

Krab, Lianne C. ; Marcos-Alcalde, Iñigo ; Assaf, Melissa...
Human Genetics.  139 (2020)  5 - p. 575-592 , 2020
Link: https://doi.org/10.1007/..
 
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7

Feasibility and Effectiveness of an Individualized 12-Week ..:

Stahlhut, Michelle ; Downs, Jenny ; Wong, Kingsley..
Physical Therapy.  100 (2019)  1 - p. 168-179 , 2019
Link: https://doi.org/10.1093/..
 
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8

Autism and developmental disability caused by KCNQ3 gain‐of..:

Sands, Tristan T. ; Miceli, Francesco ; Lesca, Gaetan...
Annals of Neurology.  86 (2019)  2 - p. 181-192 , 2019
Link: https://doi.org/10.1002/..
 
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9

Analysis of the Phenotypes in the Rett Networked Database:

Frullanti, Elisa ; Papa, Filomena T. ; Grillo, Elisa...
International Journal of Genomics.  2019 (2019)  - p. 1-9 , 2019
Link: https://doi.org/10.1155/..
 
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10

Diagnosis and management of Cornelia de Lange syndrome: fir..:

Kline, Antonie D. ; Moss, Joanna F. ; Selicorni, Angelo...
Nature Reviews Genetics.  19 (2018)  10 - p. 649-666 , 2018
Link: https://doi.org/10.1038/..
 
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11

Facilitators and Barriers of Participation in "Uptime" Acti..:

Stahlhut, Michelle ; Esbensen, Bente Appel ; Larsen, Jane Lunding...
Qualitative Health Research.  29 (2018)  4 - p. 609-619 , 2018
Link: https://doi.org/10.1177/..
 
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12

Mosaic MECP2 variants in males with classical Rett syndrome..:

Schönewolf‐Greulich, Bitten ; Bisgaard, Anne‐Marie ; Dunø, Morten...
Clinical Genetics.  95 (2018)  3 - p. 403-408 , 2018
Link: https://doi.org/10.1111/..
 
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13

Phenotypes and genotypes in individuals with SMC1A variants:

Huisman, Sylvia ; Mulder, Paul A. ; Redeker, Egbert...
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2108-2125 , 2017
Link: https://doi.org/10.1002/..
 
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14

Measurement of Sedentary Behaviors or "Downtime" in Rett Sy..:

Stahlhut, Michelle ; Hill, Kylie ; Bisgaard, Anne-Marie...
Journal of Child Neurology.  32 (2017)  12 - p. 1009-1013 , 2017
Link: https://doi.org/10.1177/..
 
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15

Validating the Rett Syndrome Gross Motor Scale:

Downs, Jenny ; Stahlhut, Michelle ; Wong, Kingsley...
PLOS ONE.  11 (2016)  1 - p. e0147555 , 2016
Link: https://doi.org/10.1371/..
 
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