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Results: 8

1.

Heart defects and other features of the 22q11 distal deletion syndrome.

Fagerberg CR, Graakjaer J, Heinl UD, Ousager LB, Dreyer I, Kirchhoff M, Rasmussen AA, Lautrup CK, Birkebaek N, Sorensen K.

Eur J Med Genet. 2013 Feb;56(2):98-107. doi: 10.1016/j.ejmg.2012.09.009. Epub 2012 Oct 10. Review.

PMID:
23063575
2.

Histiocytic disorders of the gastrointestinal tract.

Detlefsen S, Fagerberg CR, Ousager LB, Lindebjerg J, Marcussen N, Nathan T, Sørensen FB.

Hum Pathol. 2013 May;44(5):683-96. doi: 10.1016/j.humpath.2012.05.010. Epub 2012 Oct 11. Review.

PMID:
23063502
3.

Nablus mask-like facial syndrome: deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype.

Allanson J, Smith A, Hare H, Albrecht B, Bijlsma E, Dallapiccola B, Donti E, Fitzpatrick D, Isidor B, Lachlan K, Le Caignec C, Prontera P, Raas-Rothschild A, Rogaia D, van Bon B, Aradhya S, Crocker SF, Jarinova O, McGowan-Jordan J, Boycott K, Bulman D, Fagerberg CR.

Am J Med Genet A. 2012 Sep;158A(9):2091-9. doi: 10.1002/ajmg.a.35446. Epub 2012 Jul 20.

PMID:
22821852
4.

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

Jelsig AM, Brasch-Andersen C, Kibæk M, Fagerberg CR.

Eur J Med Genet. 2012 Oct;55(10):564-7. doi: 10.1016/j.ejmg.2012.06.009. Epub 2012 Jun 30.

PMID:
22750323
5.

Trisomy 14 mosaicism: clinical and cytogenetic findings in an adult.

Fagerberg CR, Eriksen FB, Thormann J, Østergaard JR.

Clin Dysmorphol. 2012 Jan;21(1):45-7. doi: 10.1097/MCD.0b013e32834a0436.

PMID:
21857505
6.

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation.

Bygum A, Fagerberg CR, Clemmensen OJ, Fiebig B, Hafner C.

BMC Med Genet. 2011 Jun 5;12:79. doi: 10.1186/1471-2350-12-79.

7.

Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency.

Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C.

Allergy. 2011 Jan;66(1):76-84. doi: 10.1111/j.1398-9995.2010.02456.x. Epub 2010 Aug 30.

PMID:
20804470
8.

How well do patient and general practitioner agree about the content of consultations?

Fagerberg CR, Kragstrup J, Støvring H, Rasmussen NK.

Scand J Prim Health Care. 1999 Sep;17(3):149-52.

PMID:
10555243
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