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Lista de obras de Iben Bache

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Haploinsufficiency of ARHGAP42 is associated with hypertension

artículo científico publicado en 2019

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

artículo científico publicado en 2012

Haploinsufficiency of TAB2 causes congenital heart defects in humans

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2006

von Hippel-Lindau development in children and adolescents

artículo científico publicado en 2017

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