Publications
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APPROVED
The role of SLC2A1 in early onset and childhood absence epilepsies.
/ Muhle, Hiltrud ; Helbig, Ingo ; Guldberg Frøsle, Tobias ; Suls, Arvid ; von Spiczak, Sarah ; Line Klitten, Laura ; Atli Dahl, Hans
; Brusgaard, Klaus
; Neubauer, Bernd ; De Jonghe, Peter ; Tommerup, Niels ; Stephani, Ulrich ; Hjalgrim, Helle; Steensbjerre Møller, Rikke .
I:
Epilepsy Research
, 07.01.2013.
Publikation
:
Forskning - peer review
›Tidsskriftartikel
APPROVED
Unraveling the effects of 1,25(OH)(2)D(3) on global gene expression in pancreatic islets.
/
Wolden-Kirk, H
; Overbergh, L; Gysemans, C
; Brusgaard, K
; Naamane, N; Van Lommel, L; Schuit, F; Eizirik, D L
; Christesen, H
; Mathieu, C.
I:
Journal of Steroid Biochemistry and Molecular Biology
, 05.11.2013.
Publikation
:
Forskning - peer review
›Tidsskriftartikel
VALIDATED
Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome : Hearing Loss, Retinitis Pigmentosa, and Hyperinsulinemic Hypoglycemia Ranging from Severe to Mild with Conversion to Diabetes.
/ Al Mutair, Angham N
; Brusgaard, Klaus
; Bin-Abbas, Bassam; Hussain, Khalid; Felimban, Naila; Al Shaikh, Adnan
; Christesen, Henrik T
.
I:
Diabetes Care
, Vol. 36, Nr. 3, 12.11.2013, s. 557-561.
Publikation
:
Forskning - peer review
›Tidsskriftartikel
VALIDATED
Genotype-phenotype association in children with congenital hyperinsulinism.
/ Melikyan, M. ; Petraykina, E. ; Volkov, I ; Averyanova, Y. ; Gurevich, L.; Peterkova, V.
; Brusgaard, Klaus; Christesen, Henrik Thybo
.
2012. Abstract from European Association of Paediatric Endocrinology (ESPE), Leipzig, Tyskland.
Publikation
:
Forskning
›Konferenceabstrakt til konference
VALIDATED
A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism.
/
Christesen, Henrik Thybo; Brusgaard, Klaus
; Ditkovskaya, L; Melikyan, M.
2012. Abstract from 51st Annual Meeting of the European Society for Paediatric Endocrinology, Leipzig, Tyskland.
Publikation
:
Forskning - peer review
›Konferenceabstrakt til konference
VALIDATED
Mutations in ENG, ALK1 and SMAD4 among Danish patients with HHT.
/
Mathiesen Tørring, Pernille; Kjeldsen, Anette Drøhse
; Ousager, Lilian Bomme
; Brusgaard, Klaus
.
2012. Poster session presented at 19th Workshop of the International Society for the Study of Vascular Anomalies (ISSVA), Malmø, Sverige.
Publikation
:
Forskning
›Poster
VALIDATED
Genotype-phenotype association in children with congenital hyperinsulinism.
/ Melikyan, M. ; Petraykina, E. ; Volkov, I ; Averyanova, Y. ; Gurevich, L.; Peterkova, V.
; Brusgaard, Klaus; Christesen, Henrik Thybo
.
2012. Poster session presented at European Association of Paediatric Endocrinology (ESPE), Leipzig, Tyskland.
Publikation
:
Forskning
›Poster
VALIDATED
A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism.
/
Christesen, Henrik Thybo; Brusgaard, Klaus
; Ditkovskaya, L; Melikyan, M.
2012. Poster session presented at 51st Annual Meeting of the European Society for Paediatric Endocrinology, Leipzig, Tyskland.
Publikation
:
Forskning
›Poster
VALIDATED
Genotype-phenotype associations in children with congenital hyperinsulinism.
/ Malikyan, Maria
; Brusgaard, Klaus
; Petraykina, Elena; Volkov, Igor; Averyanova, Yulia; Kareva, Maria; Peterkova, Valentina; Gurevich, Larisa
; Christesen, Henrik Thybo
.
I:
Hormone Research in Paediatrics
, Vol. 76, Nr. 2, 2012, s. 225.
Publikation
:
Forskning - peer review
›Konferenceartikel
VALIDATED
Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
/
Beck-Nielsen, Signe; Brixen, Kim; Gram, Jeppe; Brusgaard, Klaus
.
I:
Journal of Human Genetics
, Vol. 57, Nr. 7, 2012, s. 453-8.
Publikation
:
Forskning - peer review
›Tidsskriftartikel