Jenny Blechingberg

3PUBLICATIONS
27CO-AUTHORS
Developmental genetics (incl. sex determination)Gene mappingCardiology (incl. cardiovascular diseases)
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Publications (3)

|Sep 11, 2024
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter

|Mar 01, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak

|May 12, 2021
A novel homozygous variant in C1QBP causes severe IUGR, edema, and cardiomyopathy in two fetuses.

Morten Alstrup, Ida Vogel, Puk Sandager

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