Iben Bache

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 24 publications

The Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome.

The Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome.

Journal: Orphanet journal of rare diseases

Published: August 10, 2025

Placental mosaicism for structural chromosomal variants: follow-up of 251 Danish cases (1983-2021).

Placental mosaicism for structural chromosomal variants: follow-up of 251 Danish cases (1983-2021).

Journal: Placenta

Published: April 29, 2025

Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.

Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.

Journal: JIMD reports

Published: March 12, 2025

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing.

Journal: Clinical genetics

Published: November 12, 2024

Placental mosaicism for autosomal trisomies: comprehensive follow-up of 528 Danish cases (1983-2021).

Placental mosaicism for autosomal trisomies: comprehensive follow-up of 528 Danish cases (1983-2021).

Journal: American journal of obstetrics & gynecology MFM

Published: June 06, 2024

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

ARID1B-related disorder in 87 adults: Natural history and self-sustainability.

Journal: Genetics in medicine open

Published: November 30, 2023

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study.

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study.

Journal: Lancet (London, England)

Published: August 31, 2022

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Journal: Biomedicines

Published: September 17, 2020

Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.

Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review.

Journal: Prenatal diagnosis

Published: August 19, 2020

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome.

Journal: Blood cancer journal

Published: November 28, 2019

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Journal: Human mutation

Published: October 23, 2018

Haploinsufficiency of ARHGAP42 is associated with hypertension.

Haploinsufficiency of ARHGAP42 is associated with hypertension.

Journal: European journal of human genetics : EJHG

Published: October 15, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026