Birkebæk NH - Search Results

1

Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome.

Karstensen HG, Rendtorff ND, Hindbæk LS, Colombo R, Stein A, Birkebæk NH, Hartmann-Petersen R, Lindorff-Larsen K, Højland AT, Petersen MB, Tranebjærg L. Karstensen HG, et al. Among authors: birkebaek nh. Eur J Med Genet. 2020 Mar;63(3):103733. doi: 10.1016/j.ejmg.2019.103733. Epub 2019 Aug 23. Eur J Med Genet. 2020. PMID: 31449985

2

Further delineation of 17p13.3 microdeletion involving CRK. The effect of growth hormone treatment.

Østergaard JR, Graakjær J, Brandt C, Birkebæk NH. Østergaard JR, et al. Among authors: birkebaek nh. Eur J Med Genet. 2012 Jan;55(1):22-6. doi: 10.1016/j.ejmg.2011.09.004. Epub 2011 Oct 24. Eur J Med Genet. 2012. PMID: 22085993

3

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. Fagerberg CR, et al. Eur J Med Genet. 2013 Feb;56(2):98-107. doi: 10.1016/j.ejmg.2012.09.009. Epub 2012 Oct 10. Eur J Med Genet. 2013. PMID: 23063575 Review.

4

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency.

Birkebæk NH, Sørensen JS, Vikre-Jørgensen J, Jensen PK, Pedersen O, Hansen T. Birkebæk NH, et al. Case Rep Genet. 2011;2011:768610. doi: 10.1155/2011/768610. Epub 2011 Oct 20. Case Rep Genet. 2011. PMID: 23074679 Free PMC article.

5

A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.

Børglum AD, Balslev T, Haagerup A, Birkebaek N, Binderup H, Kruse TA, Hertz JM. Børglum AD, et al. Eur J Hum Genet. 2001 Oct;9(10):753-7. doi: 10.1038/sj.ejhg.5200701. Eur J Hum Genet. 2001. PMID: 11781686

6

Fertility and pregnancy outcome in Danish women with Turner syndrome.

Birkebaek NH, Crüger D, Hansen J, Nielsen J, Bruun-Petersen G. Birkebaek NH, et al. Clin Genet. 2002 Jan;61(1):35-9. doi: 10.1034/j.1399-0004.2002.610107.x. Clin Genet. 2002. PMID: 11903353

7

Effect of weight reduction on insulin sensitivity, sex hormone-binding globulin, sex hormones and gonadotrophins in obese children.

Birkebaek NH, Lange A, Holland-Fischer P, Kristensen K, Rittig S, Vilstrup H, Handberg A, Gronbaek H. Birkebaek NH, et al. Eur J Endocrinol. 2010 Dec;163(6):895-900. doi: 10.1530/EJE-10-0538. Epub 2010 Sep 9. Eur J Endocrinol. 2010. PMID: 20829367

8

Reduced sCD36 following weight loss corresponds to improved insulin sensitivity, dyslipidemia and liver fat in obese children.

Knøsgaard L, Kazankov K, Birkebæk NH, Holland-Fischer P, Lange A, Solvig J, Hørlyck A, Kristensen K, Rittig S, Vilstrup H, Grønbæk H, Handberg A. Knøsgaard L, et al. Among authors: birkebaek nh. Eur J Clin Nutr. 2016 Sep;70(9):1073-7. doi: 10.1038/ejcn.2016.88. Epub 2016 Jun 8. Eur J Clin Nutr. 2016. PMID: 27273071

9

Cryopreservation of ovarian tissue for fertility preservation in a large cohort of young girls: focus on pubertal development.

Jensen AK, Rechnitzer C, Macklon KT, Ifversen MR, Birkebæk N, Clausen N, Sørensen K, Fedder J, Ernst E, Andersen CY. Jensen AK, et al. Hum Reprod. 2017 Jan;32(1):154-164. doi: 10.1093/humrep/dew273. Epub 2016 Nov 5. Hum Reprod. 2017. PMID: 27816923

10

Effects of lifestyle intervention on IGF-1, IGFBP-3, and insulin resistance in children with obesity with or without metabolic-associated fatty liver disease.

Haldrup D, Wei C, Holland-Fischer P, Kristensen K, Rittig S, Lange A, Hørlyck A, Solvig J, Grønbæk H, Birkebæk NH, Frystyk J. Haldrup D, et al. Among authors: birkebaek nh. Eur J Pediatr. 2023 Feb;182(2):855-865. doi: 10.1007/s00431-022-04731-1. Epub 2022 Dec 12. Eur J Pediatr. 2023. PMID: 36508014

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