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Author/Creator Horemuzova, Eva

1. Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Issue 10 (22nd August 2018)

Authors:
Pettersson, Maria; Vaz, Raquel; Hammarsjö, Anna; Eisfeldt, Jesper; Carvalho, Claudia M.B.; Hofmeister, Wolfgang; Tham, Emma; Horemuzova, Eva; Voss, Ulrika; Nishimura, Gen; Klintberg, Bo; Nordgren, Ann; Nilsson, Daniel; Grigelioniene, Giedre; Lindstrand, Anna
Journal:
Human mutation
Issue:
Volume 39:Issue 10(2018)
Page Start:
1456
Record Type:
Journal Article
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2. Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course. Issue 7 (26th March 2014)

Authors:
Grigelioniene, Giedre; Geiberger, Stefan; Horemuzova, Eva; Moström, Eva; Jäntti, Nina; Neumeyer, Lo; Åström, Eva; Nordenskjöld, Magnus; Nordgren, Ann; Mäkitie, Outi
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 7(2014.)
Page Start:
1635
Record Type:
Journal Article
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3. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations. Issue 10 (26th July 2013)

Authors:
Iida, Aritoshi; Simsek‐Kiper, Pelin Özlem; Mizumoto, Shuji; Hoshino, Touma; Elcioglu, Nursel; Horemuzova, Eva; Geiberger, Stefan; Yesil, Gozde; Kayserili, Hülya; Utine, Gülen Eda; Boduroglu, Koray; Watanabe, Shigehiko; Ohashi, Hirofumi; Alanay, Yasemin; Sugahara, Kazuyuki; Nishimura, Gen; Ikegawa...
Journal:
Human mutation
Issue:
Volume 34:Issue 10(2013:Oct.)
Page Start:
1381
Record Type:
Journal Article
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4. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. (4th January 2018)

Authors:
Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Débora Romeo; Åström, Eva; Svensson, Johan; Yamamoto, Guilherme Lopes; Hammarsjö, Anna; Horemuzova, Eva; Papadogiannakis, Nikos; Iwarsson, Erik; Grigelioniene, Giedre; Tham, Emma
Journal:
Journal of bone and mineral research
Issue:
Volume 33:Number 4(2018)
Page Start:
753
Record Type:
Journal Article
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5. Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2. (4th January 2018)

Authors:
Leal, Gabriela Ferraz; Nishimura, Gen; Voss, Ulrika; Bertola, Débora Romeo; Åström, Eva; Svensson, Johan; Yamamoto, Guilherme Lopes; Hammarsjö, Anna; Horemuzova, Eva; Papadiogannakis, Nikos; Iwarsson, Erik; Grigelioniene, Giedre; Tham, Emma
Journal:
Journal of bone and mineral research
Issue:
Volume 33:Number 4(2018)
Page Start:
753
Record Type:
Journal Article
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7. Pre‐ and postnatal growth failure with microcephaly due to two novel heterozygous IGF1R mutations and response to growth hormone treatment. (6th March 2020)

Authors:
Gkourogianni, Alexandra; Andrade, Anenisia C.; Jonsson, Björn‐Anders; Segerlund, Emma; Werner‐Sperker, Antje; Horemuzova, Eva; Dahlgren, Jovanna; Burstedt, Magnus; Nilsson, Ola
Journal:
Acta pædiatrica
Issue:
Volume 109:Number 10(2020)
Page Start:
2067
Record Type:
Journal Article
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