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Author/Creator Laurell, Tobias

1. Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. Issue 4 (4th February 2022)

Authors:
Frisk, Sofia; Wachtmeister, Alexandra; Laurell, Tobias; Lindstrand, Anna; Jäntti, Nina; Malmgren, Helena; Lagerstedt‐Robinson, Kristina; Tesi, Bianca; Taylan, Fulya; Nordgren, Ann
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 10:Issue 4(2022)
Page Start:
n/a
Record Type:
Journal Article
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2. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. Issue 1 (7th November 2013)

Authors:
Lindstrand, Anna; Grigelioniene, Giedre; Nilsson, Daniel; Pettersson, Maria; Hofmeister, Wolfgang; Anderlid, Britt-Marie; Kant, Sarina G.; Ruivenkamp, Claudia A L; Gustavsson, Peter; Valta, Helena; Geiberger, Stefan; Topa, Alexandra; Lagerstedt-Robinson, Kristina; Taylan, Fulya; Wincent, Josephin...
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 1(2014)
Page Start:
45
Record Type:
Journal Article
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3. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth. Issue 2 (9th May 2019)

Authors:
Frisk, Sofia; Taylan, Fulya; Blaszczyk, Izabela; Nennesmo, Inger; Annerén, Göran; Herm, Bettina; Stattin, Eva‐Lena; Zachariadis, Vasilios; Lindstrand, Anna; Tesi, Bianca; Laurell, Tobias; Nordgren, Ann
Journal:
Clinical genetics
Issue:
Volume 96:Issue 2(2019)
Page Start:
118
Record Type:
Journal Article
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5. Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature. Issue 11 (21st September 2018)

Authors:
Frisk, Sofia; Grandpeix‐Guyodo, Catherine; Popovic Silwerfeldt, Karin; Hjartarson, Helgi Thor; Chatzianastassiou, Dimitris; Magnusson, Irina; Laurell, Tobias; Nordgren, Ann
Journal:
Clinical case reports
Issue:
Volume 6:Issue 11(2018)
Page Start:
2103
Record Type:
Journal Article
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6. Identification of three novel FGF16 mutations in X‐linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease. Issue 5 (14th May 2014)

Authors:
Laurell, Tobias; Nilsson, Daniel; Hofmeister, Wolfgang; Lindstrand, Anna; Ahituv, Nadav; Vandermeer, Julia; Amilon, Anders; Annerén, Göran; Arner, Marianne; Pettersson, Maria; Jäntti, Nina; Rosberg, Hans‐Eric; Cattini, Peter A.; Nordenskjöld, Agneta; Mäkitie, Outi; Grigelioniene, Giedre; Nordgren...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 5(2014:Sep.)
Page Start:
402
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗