Search filters

List of works by Iben Bache

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.

scientific article published on 13 July 2016

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

scientific article published on 9 January 2008

A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1

article

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

scientific article published on 03 March 2020

Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

scientific article published on 23 July 2014

Autoimmune diseases in women with Turner's Syndrome

article

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

scientific article

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

scientific article published on 17 September 2018

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

scientific article published on 01 December 2010

Haploinsufficiency of ARHGAP42 is associated with hypertension

scientific article published on 21 March 2019

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.

scientific article

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

scientific article published on 01 January 2011

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

scientific article published on 29 June 2016

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

scientific article published on 14 May 2019

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

scientific article published on 4 February 2016

Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

scientific article published on 13 July 2016

Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

scientific article published on 24 May 2018

Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education.

scientific article

Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

scientific article published on 01 April 2006

von Hippel-Lindau development in children and adolescents

scientific article published on 26 June 2017

Paulina is supported by:

About Paulina

Help