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Bioscience Reports
|
April 12, 2017
<i>In vitro</i> characterization of six <i>STUB1</i> variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Yasaman Pakdaman, Monica Sanchez-Guixé, Rune Kleppe, et al.
Journal of Cancer Research and Clinical Oncology
|
May 16, 2009
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations
Per Arne Andresen, Ketil Heimdal, Kristin Aaberg, et al.
Orphanet Journal of Rare Diseases
|
October 13, 2021
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Solrun Sigurdardottir, Birgitte Bjerkely, Trond G Jenssen, et al.
Orphanet Journal of Rare Diseases
|
December 2, 2023
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Ine Cockerell, Jakob Christensen, Christina E Hoei-Hansen, et al.
JIMD Reports
|
November 12, 2021
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
Hege Kampen Pihlstrøm, Mina Susanne Weedon-Fekjær, Birgitte Leisner Bjerkely, et al.
Oncotarget
|
September 22, 2018
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
José Navarro-Fernández, María Eugenia de la Morena-Barrio, Emma Martínez-Alonso, et al.
International Journal of Cancer
|
September 19, 2002
Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy
Pål Møller, Ake Borg, D Gareth Evans, et al.
Orphanet Journal of Rare Diseases
|
September 27, 2014
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, et al.
European Journal of Human Genetics : EJHG
|
April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, et al.
Familial Cancer
|
July 18, 2009
Younger age-at-diagnosis for familial malignant testicular germ cell tumor
Phuong L Mai, Bingshu E Chen, Kathy Tucker, et al.
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Search research articles
Search
Showing results (31-40 of 52) with videos related to
Sort By:
Page
of 6
Bioscience Reports
|
April 12, 2017
<i>In vitro</i> characterization of six <i>STUB1</i> variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins
Yasaman Pakdaman, Monica Sanchez-Guixé, Rune Kleppe, et al.
Journal of Cancer Research and Clinical Oncology
|
May 16, 2009
APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations
Per Arne Andresen, Ketil Heimdal, Kristin Aaberg, et al.
Orphanet Journal of Rare Diseases
|
October 13, 2021
The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease
Solrun Sigurdardottir, Birgitte Bjerkely, Trond G Jenssen, et al.
Orphanet Journal of Rare Diseases
|
December 2, 2023
Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice
Ine Cockerell, Jakob Christensen, Christina E Hoei-Hansen, et al.
JIMD Reports
|
November 12, 2021
Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress
Hege Kampen Pihlstrøm, Mina Susanne Weedon-Fekjær, Birgitte Leisner Bjerkely, et al.
Oncotarget
|
September 22, 2018
Biochemical and cellular consequences of the antithrombin p.Met1? mutation identified in a severe thrombophilic family
José Navarro-Fernández, María Eugenia de la Morena-Barrio, Emma Martínez-Alonso, et al.
International Journal of Cancer
|
September 19, 2002
Survival in prospectively ascertained familial breast cancer: analysis of a series stratified by tumour characteristics, BRCA mutations and oophorectomy
Pål Møller, Ake Borg, D Gareth Evans, et al.
Orphanet Journal of Rare Diseases
|
September 27, 2014
STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity
Ketil Heimdal, Monica Sanchez-Guixé, Ingvild Aukrust, et al.
European Journal of Human Genetics : EJHG
|
April 24, 2018
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Mélanie Rama, Claire Duflos, Isabelle Melki, et al.
Familial Cancer
|
July 18, 2009
Younger age-at-diagnosis for familial malignant testicular germ cell tumor
Phuong L Mai, Bingshu E Chen, Kathy Tucker, et al.
Page
of 6