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Laeknabladid
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February 27, 2019
[Playing god - progress in genomic medicine]
Hans Tomas Bjornsson
Genome Research
|
October 3, 2015
The Mendelian disorders of the epigenetic machinery
Hans Tomas Bjornsson
American Journal of Medical Genetics. Part A
|
November 14, 2022
Anxiety in Wiedemann-Steiner syndrome
Rowena Ng, Hans Tomas Bjornsson, Jill A Fahrner, et al.
Frontiers in Genetics
|
October 31, 2022
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome
Rowena Ng, Hans Tomas Bjornsson, Jill A Fahrner, et al.
Plos Genetics
|
June 21, 2022
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Tinna Reynisdottir, Kimberley Jade Anderson, Leandros Boukas, et al.
Journal of the International Neuropsychological Society : JINS
|
September 5, 2022
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing
Rowena Ng, Jacqueline Harris, Jill A Fahrner, et al.
Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists
|
August 11, 2023
Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome
Rowena Ng, Hans Tomas Bjornsson, Jill A Fahrner, et al.
Molecular Genetics & Genomic Medicine
|
December 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Teresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, et al.
American Journal of Medical Genetics. Part A
|
July 20, 2023
The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality
Rowena Ng, Allison Kalinousky, Jill A Fahrner, et al.
Genetics in Medicine Open
|
December 13, 2024
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome
Viktor Ingi Agustsson, Pall Asgeir Bjornsson, Ashildur Fridriksdottir, et al.
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of 3
Search research articles
Search
Showing results (1-10 of 24) with videos related to
Sort By:
Page
of 3
Laeknabladid
|
February 27, 2019
[Playing god - progress in genomic medicine]
Hans Tomas Bjornsson
Genome Research
|
October 3, 2015
The Mendelian disorders of the epigenetic machinery
Hans Tomas Bjornsson
American Journal of Medical Genetics. Part A
|
November 14, 2022
Anxiety in Wiedemann-Steiner syndrome
Rowena Ng, Hans Tomas Bjornsson, Jill A Fahrner, et al.
Frontiers in Genetics
|
October 31, 2022
Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome
Rowena Ng, Hans Tomas Bjornsson, Jill A Fahrner, et al.
Plos Genetics
|
June 21, 2022
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Tinna Reynisdottir, Kimberley Jade Anderson, Leandros Boukas, et al.
Journal of the International Neuropsychological Society : JINS
|
September 5, 2022
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing
Rowena Ng, Jacqueline Harris, Jill A Fahrner, et al.
Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists
|
August 11, 2023
Associations Between Executive Functioning, Behavioral Functioning, and Adaptive Functioning Difficulties in Wiedemann-Steiner Syndrome
Rowena Ng, Hans Tomas Bjornsson, Jill A Fahrner, et al.
Molecular Genetics & Genomic Medicine
|
December 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
Teresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer, et al.
American Journal of Medical Genetics. Part A
|
July 20, 2023
The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality
Rowena Ng, Allison Kalinousky, Jill A Fahrner, et al.
Genetics in Medicine Open
|
December 13, 2024
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome
Viktor Ingi Agustsson, Pall Asgeir Bjornsson, Ashildur Fridriksdottir, et al.
Page
of 3