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Publications by Karen Helene Ørstavik

Situs Ambiguus in a Female Fetus With Balanced (X;21) Translocation – Evidence for Functional Nullisomy of the ZIC3 Gene?

European Journal of Human Genetics

Genetics

2004

English

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A Female Patient With Retinoblastoma and Severe Intellectual Disability Carrying an X;13 Balanced Translocation Without Rearrangement in the RB1 Gene: A Case Report

BMC Medical Genomics

Genetics

2019

English

Ankylosing Spondylitis Associated With Balanced Reciprocal X-1 Translocation

Yeungnam University Journal of Medicine

2017

English

Disruption of the IQSEC2 Transcript in a Female With X;autosome Translocation T(X;20)(p11.2;q11.2) and a Phenotype Resembling X-Linked Infantile Spasms (ISSX) Syndrome

Molecular Medicine Reports

English

Down Syndrome: Characterisation of a Case With Partial Trisomy of Chromosome 21 Owing to a Paternal Balanced Translocation (15;21) (Q26;q22.1) by FISH.

Journal of Medical Genetics

Genetics

1997

English

Fertility in Balanced Heterozygotes for a Familial Centric Fusion Translocation, T(DgDg).

Journal of Medical Genetics

Genetics

1971

English

Evidence for a Functional RNA Element in the Hepatitis C Virus Core Gene

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

2007

English

Β-1,3-Glucuronyltransferase-1 Gene Implicated as a Candidate for a Schizophrenia-Like Psychosis Through Molecular Analysis of a Balanced Translocation

Molecular Psychiatry

Psychiatry

Molecular Neuroscience

English

Linkage Analysis of Polymorphisms Within the DNA Fragment XJ Cloned From the Breakpoint of an X;21 Translocation Associated With X Linked Muscular Dystrophy.

Journal of Medical Genetics

Genetics

1986

English

Mechanism and Regioselectivity for the Reactions of Propylene Oxide With X(100)-21 Surfaces (X = C, Si, Ge): A Density Functional Cluster Model Investigation

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Karen Helene Ørstavik

Situs Ambiguus in a Female Fetus With Balanced (X;21) Translocation – Evidence for Functional Nullisomy of the ZIC3 Gene?

Related publications

A Female Patient With Retinoblastoma and Severe Intellectual Disability Carrying an X;13 Balanced Translocation Without Rearrangement in the RB1 Gene: A Case Report

Ankylosing Spondylitis Associated With Balanced Reciprocal X-1 Translocation

Disruption of the IQSEC2 Transcript in a Female With X;autosome Translocation T(X;20)(p11.2;q11.2) and a Phenotype Resembling X-Linked Infantile Spasms (ISSX) Syndrome

Down Syndrome: Characterisation of a Case With Partial Trisomy of Chromosome 21 Owing to a Paternal Balanced Translocation (15;21) (Q26;q22.1) by FISH.

Fertility in Balanced Heterozygotes for a Familial Centric Fusion Translocation, T(DgDg).

Evidence for a Functional RNA Element in the Hepatitis C Virus Core Gene

Β-1,3-Glucuronyltransferase-1 Gene Implicated as a Candidate for a Schizophrenia-Like Psychosis Through Molecular Analysis of a Balanced Translocation

Linkage Analysis of Polymorphisms Within the DNA Fragment XJ Cloned From the Breakpoint of an X;21 Translocation Associated With X Linked Muscular Dystrophy.

Mechanism and Regioselectivity for the Reactions of Propylene Oxide With X(100)-21 Surfaces (X = C, Si, Ge): A Density Functional Cluster Model Investigation