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Author/Creator Andresen, Brage S.

1. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach. Issue 12 (23rd October 2022)

Authors:
Thomassen, Mads; Mesman, Romy L. S.; Hansen, Thomas V. O.; Menendez, Mireia; Rossing, Maria; Esteban‐Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T.; Pedersen, Inge S.; Teo, Soo H.; Kruse, Torben A.; Møller, Pål; Borg, Åke; Jensen, Uffe B.; Christensen, Lise L.; Singer, Christi...
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1921
Record Type:
Journal Article
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3. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. Issue 1 (25th June 2015)

Authors:
Djouadi, Fatima; Habarou, Florence; Le Bachelier, Carole; Ferdinandusse, Sacha; Schlemmer, Dimitri; Benoist, Jean François; Boutron, Audrey; Andresen, Brage S.; Visser, Gepke; de Lonlay, Pascale; Olpin, Simon; Fukao, Toshiyuki; Yamaguchi, Seiji; Strauss, Arnold W.; Wanders, Ronald J. A.; Bastin, ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 1(2016)
Page Start:
47
Record Type:
Journal Article
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4. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. Issue 12 (10th October 2018)

Authors:
Rauen, Katherine A.; Schoyer, Lisa; Schill, Lisa; Stronach, Beth; Albeck, John; Andresen, Brage S.; Cavé, Hélène; Ellis, Michelle; Fruchtman, Steven M.; Gelb, Bruce D.; Gibson, Christopher C.; Gripp, Karen; Hefner, Erin; Huang, William Y. C.; Itkin, Maxim; Kerr, Bronwyn; Linardic, Corinne M.; McM...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2924
Record Type:
Journal Article
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6. The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE‐ and ESS‐Binding Proteins thereby Causing Missplicing and Multiple Acyl‐CoA Dehydrogenation Deficiency. Issue 1 (28th October 2013)

Authors:
Olsen, Rikke K. J.; Brøner, Sabrina; Sabaratnam, Rugivan; Doktor, Thomas K.; Andersen, Henriette S.; Bruun, Gitte H.; Gahrn, Birthe; Stenbroen, Vibeke; Olpin, Simon E.; Dobbie, Angus; Gregersen, Niels; Andresen, Brage S.
Journal:
Human mutation
Issue:
Volume 35:Issue 1(2014:Jan.)
Page Start:
86
Record Type:
Journal Article
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7. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. Issue 8 (7th May 2016)

Authors:
Stevenson, David A.; Schill, Lisa; Schoyer, Lisa; Andresen, Brage S.; Bakker, Annette; Bayrak‐Toydemir, Pinar; Burkitt‐Wright, Emma; Chatfield, Kathryn; Elefteriou, Florent; Elgersma, Ype; Fisher, Michael J.; Franz, David; Gelb, Bruce D.; Goriely, Anne; Gripp, Karen W.; Hardan, Antonio Y.; Kepple...
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 8(2016)
Page Start:
1959
Record Type:
Journal Article
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