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Ugeskrift for Laeger
|
February 13, 2009
[Delayed psychomotor development caused by malignant infantile osteopetrosis]
Malene S Heidemann, Anders J Schou, Maria Kibaek, et al.
Journal of Pain Research
|
October 18, 2011
Effect of a clown's presence at botulinum toxin injections in children: a randomized, prospective study
Lars Kjaersgaard Hansen, Maria Kibaek, Torben Martinussen, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2014
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Deborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, et al.
American Journal of Medical Genetics. Part A
|
July 14, 2016
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature
Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, et al.
Human Genetics
|
December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
Pia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
American Journal of Human Genetics
|
October 22, 2013
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
Andrew Dauber, Christelle Golzio, Cécile Guenot, et al.
Epilepsia
|
November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
Jan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypes
Elyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
European Journal of Medical Genetics
|
August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndrome
Christiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Medical Genetics. Part A
|
September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Samuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
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Search research articles
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Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
Ugeskrift for Laeger
|
February 13, 2009
[Delayed psychomotor development caused by malignant infantile osteopetrosis]
Malene S Heidemann, Anders J Schou, Maria Kibaek, et al.
Journal of Pain Research
|
October 18, 2011
Effect of a clown's presence at botulinum toxin injections in children: a randomized, prospective study
Lars Kjaersgaard Hansen, Maria Kibaek, Torben Martinussen, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2014
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes
Deborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, et al.
American Journal of Medical Genetics. Part A
|
July 14, 2016
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature
Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, et al.
Human Genetics
|
December 1, 2005
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping
Pia Pinholt Madsen, Maria Kibaek, Xavier Roca, et al.
American Journal of Human Genetics
|
October 22, 2013
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
Andrew Dauber, Christelle Golzio, Cécile Guenot, et al.
Epilepsia
|
November 6, 2015
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome
Jan Larsen, Katrine Marie Johannesen, Jakob Ek, et al.
American Journal of Medical Genetics. Part A
|
October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypes
Elyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.
European Journal of Medical Genetics
|
August 2, 2005
Clinical and mutational spectrum of Mowat-Wilson syndrome
Christiane Zweier, Christian T Thiel, Andreas Dufke, et al.
American Journal of Medical Genetics. Part A
|
September 12, 2025
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder
Samuel M Bradbrook, Gail Graham, Melissa T Carter, et al.
Page
of 2