Search research articles
Contact Us
Filters
Showing results (1-10 of 24) with videos related to
Page
of 3
Sort By:
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 1, 2015
Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012
Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Kirstine Ravn, et al.
American Journal of Medical Genetics. Part A
|
July 30, 2013
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
Bitten Schönewolf-Greulich, Kirstine Ravn, Bente Hamborg-Petersen, et al.
Disability and Rehabilitation
|
May 22, 2016
Functional abilities in aging women with Rett syndrome - the Danish cohort
Bitten Schönewolf-Greulich, Michelle Stahlhut, Jane Lunding Larsen, et al.
Frontiers in Neurology
|
April 9, 2020
Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic <i>IMMP2L</i> Deletions
Victoria A Bjerregaard, Bitten Schönewolf-Greulich, Lene Juel Rasmussen, et al.
Ugeskrift for Laeger
|
August 5, 2015
[Clinical molecular genetics diagnostics of Rett syndrome in Denmark]
Bitten Schönewolf-Greulich, Morten Dunø, Kirstine Ravn, et al.
Ugeskrift for Laeger
|
April 2, 2011
[Increased nuchal translucency in osteogenesis imperfecta]
Bitten Schönewolf-Greulich, Lillian Skibsted, Lisa Leth Maroun, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M Hansen, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2021
Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study
Anne-Marie Bisgaard, Kingsley Wong, Anne-Katrine Højfeldt, et al.
European Journal of Medical Genetics
|
August 14, 2022
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Bitten Schönewolf-Greulich, Helena Gásdal Karstensen, Tina D Hjortshøj, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, et al.
Page
of 3
Search research articles
Search
Showing results (1-10 of 24) with videos related to
Sort By:
Page
of 3
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 1, 2015
Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012
Anne-Marie Bisgaard, Bitten Schönewolf-Greulich, Kirstine Ravn, et al.
American Journal of Medical Genetics. Part A
|
July 30, 2013
Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family
Bitten Schönewolf-Greulich, Kirstine Ravn, Bente Hamborg-Petersen, et al.
Disability and Rehabilitation
|
May 22, 2016
Functional abilities in aging women with Rett syndrome - the Danish cohort
Bitten Schönewolf-Greulich, Michelle Stahlhut, Jane Lunding Larsen, et al.
Frontiers in Neurology
|
April 9, 2020
Mitochondrial Function in Gilles de la Tourette Syndrome Patients With and Without Intragenic <i>IMMP2L</i> Deletions
Victoria A Bjerregaard, Bitten Schönewolf-Greulich, Lene Juel Rasmussen, et al.
Ugeskrift for Laeger
|
August 5, 2015
[Clinical molecular genetics diagnostics of Rett syndrome in Denmark]
Bitten Schönewolf-Greulich, Morten Dunø, Kirstine Ravn, et al.
Ugeskrift for Laeger
|
April 2, 2011
[Increased nuchal translucency in osteogenesis imperfecta]
Bitten Schönewolf-Greulich, Lillian Skibsted, Lisa Leth Maroun, et al.
Molecular Genetics and Metabolism Reports
|
March 4, 2016
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
Kirstine Ravn, Bitten Schönewolf-Greulich, Rikke M Hansen, et al.
American Journal of Medical Genetics. Part A
|
July 23, 2021
Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study
Anne-Marie Bisgaard, Kingsley Wong, Anne-Katrine Højfeldt, et al.
European Journal of Medical Genetics
|
August 14, 2022
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth
Bitten Schönewolf-Greulich, Helena Gásdal Karstensen, Tina D Hjortshøj, et al.
American Journal of Medical Genetics. Part A
|
November 5, 2011
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, et al.
Page
of 3