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Organizational Change, Innovation and Business Development: The Impact of Non-Technological Innovations

1st Edition., 2023

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Steinernema kraussei (Steiner, 1923) (Rhabditida: Steinernematidae) — the first record from Poland

Helminthologia, 2014-06, Vol.51 (2), p.162-166

2014

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SURF1 missense mutations promote a mild Leigh phenotype

Clinical genetics, 2009-08, Vol.76 (2), p.195-204

2009

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A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets

Nature genetics, 1995-10, Vol.11 (2), p.130-136

1995

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Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

Journal of clinical pathology, 2008-04, Vol.61 (4), p.460-466

2008

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Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.447-451

2008

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Linkage disequilibrium analysis in young populations : Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

American journal of human genetics, 1996-09, Vol.59 (3), p.633-643

1996

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Prevalence of ornithine transcarbamylase deficiency late—onset form in Polish experience

European journal of paediatric neurology, 2008, Vol.12, p.S8-S9

2008

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DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

Clinical genetics, 2004-12, Vol.66 (6), p.517-524

2004

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SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

European journal of medical genetics, 2006-11, Vol.49 (6), p.499-504

2006

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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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Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies

Clinical genetics, 2006-01, Vol.69 (1), p.77-85

2006

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The spectrum of hypoxanthine – guanine phosphoribosyltransferase deficiency in Poland

European journal of paediatric neurology, 2008, Vol.12, p.S63-S63

2008

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Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates

Journal of inherited metabolic disease, 2001-11, Vol.24 (7), p.707-714

2001

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Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

Journal of inherited metabolic disease, 1999-02, Vol.22 (1), p.92-93

1999

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Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val)

Neurologia i neurochirurgia polska, 2013, Vol.47 (3), p.283-289

2013

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Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

Human molecular genetics, 1997-04, Vol.6 (4), p.539-549

1997

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Anthropometric characteristics of X-linked hypophosphatemia

American journal of medical genetics, 2004-04, Vol.126A (2), p.141-149

2004

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Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

Molecular genetics and metabolism, 2003-07, Vol.79 (3), p.149-159

2003

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Short Report: Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies

Clinical genetics, 2006-01, Vol.69 (1), p.77

2006

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Reaction of various ecotypes of entomopathogenic fungus beauveria bassiana on the botanical preparation Neem™ and pyretroid Fastak

Archiv für Phytopathologie und Pflanzenschutz, 1998-02, Vol.31 (4), p.369-375

1998

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Abnormal Calcium Homeostasis in Fibroblasts from Patients with Leigh Disease

Biochemical and biophysical research communications, 2001-05, Vol.283 (3), p.687-693

2001

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A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

European journal of medical genetics, 2005-04, Vol.48 (2), p.207-209

2005

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Biochemical and DNA markers of X‐linked hypophosphataemic rickets: A study of sporadic cases

Journal of inherited metabolic disease, 1992-05, Vol.15 (3), p.335-338

1992

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Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.492-500

1998

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Organizational Change, Innovation and Business Development: The Impact of Non-Technological Innovations

Steinernema kraussei (Steiner, 1923) (Rhabditida: Steinernematidae) — the first record from Poland

SURF1 missense mutations promote a mild Leigh phenotype

A gene ( PEX ) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease

Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations

Linkage disequilibrium analysis in young populations : Pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

Prevalence of ornithine transcarbamylase deficiency late—onset form in Polish experience

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

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

Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies

The spectrum of hypoxanthine – guanine phosphoribosyltransferase deficiency in Poland

Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates

Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients

Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val)

Distribution of Mutations in the PEX Gene in Families with X-linked Hypophosphataemic Rickets (HYP)

Anthropometric characteristics of X-linked hypophosphatemia

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis

Short Report: Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies

Reaction of various ecotypes of entomopathogenic fungus beauveria bassiana on the botanical preparation Neem™ and pyretroid Fastak

Abnormal Calcium Homeostasis in Fibroblasts from Patients with Leigh Disease

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

Biochemical and DNA markers of X‐linked hypophosphataemic rickets: A study of sporadic cases

Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II

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