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Publications by Marijke Van Ghelue

A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

European Journal of Human Genetics

Genetics

2000

English

Intensity Dependent Confidence Intervals on Microarray Measurements of Differentially Expressed Genes: A Case Study of the Effect of MK5, FKRP and TAF4 on the Transcriptome

Gene Regulation and Systems Biology

Computer Science Applications

Behavior

2007

English

Related publications

A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome

American Journal of Medical Genetics, Part A

Genetics

2009

English

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

Neurology

2018

English

First TMEM126A Missense Mutation in an Italian Proband With Optic Atrophy and Deafness

English

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness

American Journal of Pathology

Forensic Medicine

Pathology

2008

English

A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome

American Journal of Human Genetics

Genetics

1997

English

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

Endocrine Abstracts

2015

English

The De Novo Missense Mutation N117S in Skeletal Muscle Α‑actinï¿½1 Causes a Mild Form of Congenital Nemaline Myopathy

Molecular Medicine Reports

English

The First De Novo Mutation of the Connexin 32 Gene Associated With X Linked Charcot-Marie-Tooth Disease.

Journal of Medical Genetics

Genetics

1998

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Marijke Van Ghelue

A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

Intensity Dependent Confidence Intervals on Microarray Measurements of Differentially Expressed Genes: A Case Study of the Effect of MK5, FKRP and TAF4 on the Transcriptome

Related publications

A Missense Mutation, p.V132G, in the X-Linked Spermine Synthase Gene (SMS) Causes Snyder-Robinson Syndrome

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

First TMEM126A Missense Mutation in an Italian Proband With Optic Atrophy and Deafness

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness

A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome

A Novel Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

X-Linked Adrenal Hypoplasia Congenita With a Novel DAX1 Missense Mutation

The De Novo Missense Mutation N117S in Skeletal Muscle Α‑actinï¿½1 Causes a Mild Form of Congenital Nemaline Myopathy

The First De Novo Mutation of the Connexin 32 Gene Associated With X Linked Charcot-Marie-Tooth Disease.