List of works - Janusz Zimowski

Application of a rapid non-invasive technique in the molecular diagnosis of spinal muscular atrophy (SMA).

scientific article published in March 2005

Arylsulfatase A pseudodeficiency--incidence in Poland

scientific article published on 01 January 1996

Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician

scientific article published in January 2016

Complex glycerol kinase deficiency - X-linked contiguous gene syndrome involving congenital adrenal hypoplasia, glycerol kinase deficiency, muscular Duchenne dystrophy and intellectual disability (IL1RAPL gene deletion)

scientific article published on January 1, 2012

Detection of deletions within the dystrophin gene in Polish families affected with Duchenne/Becker muscular dystrophy

scientific article published on 01 March 1997

Detection of dystrophin gene mutation carrier state

scientific article published in March 1996

First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification

scientific article published on 8 January 2016

Genetic polymorphisms and serum concentrations of adiponectin and resistin in anorexia nervosa and healthy controls - pilot study

scholarly article by Karolina Ziora-Jakutowicz et al published 1 July 2017 in Neuro endocrinology letters

Hereditary form of prion disease in Poland.

scientific article published in November 2012

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

scientific article published on 15 January 2010

Interaction between polymorphisms of the oxytocinergic system genes and emotion perception in inpatients with anorexia nervosa

scientific article published on 05 August 2019

MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.

scientific article published on 24 October 2014

Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review

scientific article published on 26 March 2020

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease

scientific article (publication date: 2009)

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

scientific article published on 16 May 2016

Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland

scientific article published on 01 January 2000

Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA

scientific article published on 01 September 2006

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation

scientific article

Two mutations in one dystrophin gene.

scientific article published in March 2013

Unaffected patients with a homozygous absence of the SMN1 gene

scientific article published on 12 March 2008

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy

scientific article published on 01 June 2020

[Carrier's detection in families affected by Duchenne/Becker muscular dystrophy in which DNA from affected individuals is not available]

scientific article published on 01 November 1999

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]

scientific article published on 01 July 1993

[Detecting carriers of a deletion in the dystrophin gene in families with a single case of Duchenne/Becker muscular dystrophy]