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List of works by Tadeusz Mazurczak

A family with paroxysmal nonkinesigenic dyskinesia: genetic and treatment issues.

scientific article

Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.

scientific article published on 23 July 2012

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

scientific article published on 03 December 2013

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

scientific article published on 3 October 2012

Assessment of the role of copy-number variants in 150 patients with congenital heart defects

scientific article published on 01 July 2012

Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid.

scientific article published on 5 January 2012

Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation

scientific article published in November 2007

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

scientific article published in May 2011

Molecular analysis of a constitutional complex genome rearrangement with 11 breakpoints involving chromosomes 3, 11, 12, and 21 and a approximately 0.5-Mb submicroscopic deletion in a patient with mild mental retardation

scientific article published on 15 November 2005

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients

scientific article published on January 2007

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3).

scientific article published on January 2005

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

scientific article

Subtelomeric rearrangements: results from FISH studies in 84 families with idiopathic mental retardation.

scientific article published in April 2004

The ARX mutations: a frequent cause of X-linked mental retardation.

scientific article

Towards a Better Molecular Diagnosis of FMR1-Related Disorders-A Multiyear Experience from a Reference Lab.

scientific article published on 02 September 2016

[Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues]

scientific article published on 01 October 2011

[Balanced chromosomal rearrangements resulting in intellectual disability. An analysis of 22 cases with application of CGH and FISH methods]

scientific article published on 01 April 2009

[Case of subtelomeric aberration as a cause of familial intellectual disability with congenital defects and dysmorphic features--problems of diagnosis and genetic counseling]

scientific article published on 01 July 2003

[Characterization of marker chromosomes using molecular cytogenetic methods in patients with mental retardation and congenital malformations]

scientific article published on 01 January 2006

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases]

scientific article published on 01 January 2007

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene]

scientific article published on 01 April 2005

[Clinical symptoms and molecular pathogenesis of Noonan syndrome--current concepts]

scientific article published on 01 January 2006

[Cytogenetic-molecular analysis of balanced chromosomal rearrangements in nine patients with intellectual disability, dysmorphic features and congenital abnormalities]

scientific article published on 01 January 2006

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features]

scientific article published on 01 January 2006

[Prenatal diagnosis of cystic fibrosis in risk families in Poland--results of molecular analysis]

scientific article published on 01 October 2004

[Primary torsion dystonia--clinical and molecular aspects]

scientific article published on 01 January 2006

[Subtelomeric aberration as a cause of severe somatic and psychomotor retardation in a child with dysmorphic features and CNS defects]

scientific article published on 01 October 2004

[Variability in clinical expression of Noonan syndrome--the report of two familial cases].

scientific article published in January 2008

[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases]

scientific article published on 01 July 2008

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