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Bisgaard, Anne-Marie
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1

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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2

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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3

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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4

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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5

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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6

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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7

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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8

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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9

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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10

Clinical Guidelines for Management of Bone Health in Rett S..:

Jefferson, Amanda ; Leonard, Helen ; Siafarikas, Aris...
PLOS ONE.  11 (2016)  2 - p. e0146824 , 2016
Link: https://doi.org/10.1371/..
 
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11

Is it possible to diagnose Rett syndrome before classical s..:

Bisgaard, Anne-Marie ; Schönewolf-Greulich, Bitten ; Ravn, Kirstine.
European Journal of Paediatric Neurology.  19 (2015)  6 - p. 679-687 , 2015
Link: https://doi.org/10.1016/..
 
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12

Deletion of 11q12.3–11q13.1 in a patient with intellectual ..:

Boyle, Martine Isabel ; Jespersgaard, Cathrine ; Nazaryan, Lusine...
Gene.  572 (2015)  1 - p. 130-134 , 2015
Link: https://doi.org/10.1016/..
 
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13

Mosaicism for c.431_454dup in ARX causes a mild Partington ..:

Grønskov, Karen ; Diness, Birgitte ; Stahlhut, Michelle...
European Journal of Medical Genetics.  57 (2014)  6 - p. 284-287 , 2014
Link: https://doi.org/10.1016/..
 
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14

Rett networked database: An integrated clinical and genetic..:

Grillo, Elisa ; Villard, Laurent ; Clarke, Angus...
Human Mutation.  33 (2012)  7 - p. 1031-1036 , 2012
Link: https://doi.org/10.1002/..
 
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15

A 17q21.31 microduplication, reciprocal to the newly descri..:

Kirchhoff, Maria ; Bisgaard, Anne-Marie ; Duno, Morten..
European Journal of Medical Genetics.  50 (2007)  4 - p. 256-263 , 2007
Link: https://doi.org/10.1016/..
 
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