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Eva Horemuzova

Postdoc

Publications

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal Gf, Nishimura G, Voss U, Bertola Dr, Åström E, Svensson J, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2018;33(4):753-760

Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort
Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E
Frontiers in endocrinology 2018;9():96-

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
Wang Z, Horemuzova E, Iida A, Guo L, Liu Y, Matsumoto N, et al
Journal of human genetics 2017;62(4):503-506

Autosomal recessive brachyolmia: early radiological findings
Handa A, Tham E, Wang Z, Horemuzova E, Grigelioniene G
Skeletal radiology 2016;45(11):1557-60

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, et al
Clinical genetics 2015;87(5):496-8

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, et al
Clinical genetics 2015;87(3):273-8

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course
Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al
American journal of medical genetics. Part A 2014;164A(7):1635-41

Growth charts and long-term sequelae in extreme preterm infants--from full-term age to 10 years
Horemuzova E, Amark P, Jacobson L, Söder O, Hagenäs L
Acta paediatrica (Oslo, Norway : 1992) 2014;103(1):38-47

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Iida A, Simsek-kiper Po, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, et al
HUMAN MUTATION 2013;34(10):1381-6

FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Unger S, Gorna Mw, Le Bechec A, Do Vale-pereira S, Bedeschi Mf, Geiberger S, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2013;92(6):990-5

Growth charts for monitoring postnatal growth at NICU of extreme preterm-born infants
Horemuzova E, Soder O, Hagenas L
ACTA PAEDIATRICA 2012;101(3):292-9

Visual impairment is common in children born before 25 gestational weeks-boys are more vulnerable than girls
Jacobson L, Hard Al, Horemuzova E, Hammaren H, Hellstrom A
ACTA PAEDIATRICA 2009;98(2):261-5

Increased inspiratory effort in infants with a history of apparent life-threatening event
Horemuzova E, Katz-salamon M, Milerad J
ACTA PAEDIATRICA 2002;91(3):280-6

Breathing patterns, oxygen and carbon dioxide levels in sleeping healthy infants during the first nine months after birth
Horemuzova E, Katz-salamon M, Milerad J
ACTA PAEDIATRICA 2000;89(11):1284-9

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