Lista de obras -

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

artículo científico publicado en 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

artículo científico publicado en 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)

artículo científico publicado el 1 de enero de 2012

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

artículo científico publicado en 1997

Detection of dystrophin gene mutation carrier state

artículo científico publicado en 1996

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2009

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

artículo científico publicado en 2016

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

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

Two mutations in one dystrophin gene.

artículo científico publicado en 2013

Unaffected patients with a homozygous absence of the SMN1 gene

artículo científico publicado en 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]

scientific article published on 01 November 1999

[Germline mosaicism in a family with Duchenne muscular dystrophy]

artículo científico publicado en 1999

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]

scientific article published on 01 July 2004

[Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies]

scientific article published on 01 January 1994

Lista de obras de

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

Arylsulfatase A pseudodeficiency--incidence in Poland

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

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)

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

Detection of dystrophin gene mutation carrier state

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

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

Hereditary form of prion disease in Poland.

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

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

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

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

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

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

Prenatal diagnosis of congenital myopathies and muscular dystrophies.

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

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

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

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

Two mutations in one dystrophin gene.

Unaffected patients with a homozygous absence of the SMN1 gene

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

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

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

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

[Germline mosaicism in a family with Duchenne muscular dystrophy]

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]

[Separation of dystrophinopathies from the group previously classified as limb-girdle muscular dystrophies]