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Author/Creator Haberberger, Birgit

1. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. Issue 1 (5th May 2012)

Authors:
Haack, Tobias B.; Rolinski, Boris; Haberberger, Birgit; Zimmermann, Franz; Schum, Jessica; Strecker, Valentina; Graf, Elisabeth; Athing, Uwe; Hoppen, Thomas; Wittig, Ilka; Sperl, Wolfgang; Freisinger, Peter; Mayr, Johannes A.; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger
Journal:
Journal of inherited metabolic disease
Issue:
Volume 36:Issue 1(2013)
Page Start:
55
Record Type:
Journal Article
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2. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. Issue 4 (12th April 2012)

Authors:
Haack, Tobias B; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A; Herberg, Ulrike; Hennermann, Julia B; Klopstock, Thomas; Kuhn, Klaus A; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, ...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 4(2012)
Page Start:
277
Record Type:
Journal Article
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3. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Issue 2 (26th December 2011)

Authors:
Haack, Tobias B; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A; Ahting, Uwe; Tiranti, Valeria; Rötig, Agnes; Iuso, Arcangela; Horvath, Rita; T...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 2(2012)
Page Start:
83
Record Type:
Journal Article
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4. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Issue 3 (23rd December 2013)

Authors:
Jackson, Christopher Benjamin; Nuoffer, Jean-Marc; Hahn, Dagmar; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Häberli, Annemarie; Gallati, Sabina; Schaller, André
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 3(2014)
Page Start:
170
Record Type:
Journal Article
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