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Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

Clinical genetics, 2006-10, Vol.70 (4), p.348-354

2006

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GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations

Journal of medical genetics, 2008-09, Vol.45 (9), p.607-608

2008

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Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome

The European respiratory journal, 2003-10, Vol.22 (4), p.709-711

2003

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Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

European journal of medical genetics, 2008-03, Vol.51 (2), p.124-140

2008

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Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

Journal of applied genetics, 2010-01, Vol.51 (2), p.215-217

2010

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Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation

Clinical genetics, 2006-08, Vol.70 (2), p.167-169, Article 167

2006

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Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney

Genetic counseling, 2005, Vol.16 (4), p.377

2005

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Fibular aplasia with ectrodactyly—broadening the clinical spectrum

European journal of medical genetics, 2006, Vol.49 (1), p.83-86

2006

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Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

American journal of human genetics, 1999-07, Vol.65 (1), p.111-124

1999

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Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker

Genetic counseling, 2006, Vol.17 (1), p.29

2006

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Increase in the incidence of type 1 diabetes mellitus in children in three cities in Poland, 1987-1999

Journal of Pediatric Endocrinology and Metabolism, 2002-09, Vol.15 (8), p.1153

2002

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MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

DNA and cell biology, 2012-07, Vol.31 (7), p.1267-1273

2012

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Disorganisation: a case with popliteal pterygia and placental-skin appendages

Clinical dysmorphology, 1999-10, Vol.8 (4), p.277-282

1999

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Proteus syndrome: a case with clonal chromosome aberration

Genetic counseling, 2002, Vol.13 (4), p.427

2002

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Epidemiology of 35delG mutation in GJB2 gene in a Polish population

Journal of audiological medicine, 2001-01, Vol.10 (2), p.136-141

2001

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The influence of vitamin E on rheological parameters in high altitude mountaineers

International journal for vitamin and nutrition research, 1990, Vol.60 (1), p.26

1990

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Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation

American journal of medical genetics, 2003-05, Vol.118A (4), p.343-349

2003

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Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan

American journal of medical genetics. Part A, 2006-03, Vol.140A (6), p.661-662

2006

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Short Report: Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

Clinical genetics, 2006-10, Vol.70 (4), p.348-354

2006

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Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods

Pediatria polska, 1996-03, Vol.71 (3), p.241-245

1996

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5-year follow-up of a child with an ophthalmo-cerebro-renal syndrome

Pediatria polska, 1972-04, Vol.47 (4), p.481-486

Korniszewski, L

1972

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Supernumerary marker chromosomes characterized by fluorescence in situ hybridization (FISH)

Journal of applied genetics, 1996-01, Vol.37 (3), p.313-324

1996

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Thin-needle biopsy in the diagnosis of lymphomatous thyroiditis in children

Polski tygodnik lekarski (Warsaw, Poland : 1960), 1982-08, Vol.37 (27), p.793

Korniszewski, L

1982

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A CASE OF FRIEDREICH'S DISEASE CO-EXISTING WITH CARDIAC CHANGES

Pediatria polska, 1964-03, Vol.39, p.309-313

KORNISZEWSKI, L

1964

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Polish multicenter study on diabetes type I incidence in he age group 0-14 between 1998 and 1999

Polskie archiwum medycyny wewne̦trznej, 2001-09, Vol.106 (3), p.759

2001

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Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations

Fatal primary pulmonary hypertension in a 30-yr-old female with APECED syndrome

Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

Subtelomeric rearrangements in Polish subjects with intellectual disability and dysmorphic features

Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation

Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney

Fibular aplasia with ectrodactyly—broadening the clinical spectrum

Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker

Increase in the incidence of type 1 diabetes mellitus in children in three cities in Poland, 1987-1999

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

Disorganisation: a case with popliteal pterygia and placental-skin appendages

Proteus syndrome: a case with clonal chromosome aberration

Epidemiology of 35delG mutation in GJB2 gene in a Polish population

The influence of vitamin E on rheological parameters in high altitude mountaineers

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation

Wiedemann-Rautenstrauch syndrome's fibroblasts display a normal in vitro lifespan

Short Report: Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

Marker chromosomes as a product of familial translocation (11;22) identified with molecular cytogenetic methods

5-year follow-up of a child with an ophthalmo-cerebro-renal syndrome

Supernumerary marker chromosomes characterized by fluorescence in situ hybridization (FISH)

Thin-needle biopsy in the diagnosis of lymphomatous thyroiditis in children

A CASE OF FRIEDREICH'S DISEASE CO-EXISTING WITH CARDIAC CHANGES

Polish multicenter study on diabetes type I incidence in he age group 0-14 between 1998 and 1999

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