Lista de obras -

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome

artículo científico publicado en 2009

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2019

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

artículo científico publicado en 2018

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

artículo científico publicado en 2020

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

artículo científico publicado en 2016

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

artículo científico publicado en 2009

Copy-number disorders are a common cause of congenital kidney malformations

artículo científico publicado en 2012

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

artículo científico publicado en 2011

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

scientific article published on 12 July 2019

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

artículo científico publicado en 2013

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

artículo científico publicado en 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

artículo científico publicado en 2017

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

artículo científico publicado en 2010

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

artículo científico publicado en 2017

Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

artículo científico publicado en 2020

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM).

artículo científico publicado en 2016

Hirschsprung's disease prevalence in Europe: a register based study

artículo científico publicado en 2014

Insulin analogues use in pregnancy among women with pregestational diabetes mellitus and risk of congenital anomaly: a retrospective population-based cohort study

artículo científico publicado en 2018

Maternal reproductive history and the risk of isolated congenital malformations.

artículo científico publicado en 2011

Mutations in DSTYK and dominant urinary tract malformations

artículo científico publicado en 2013

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

artículo científico publicado en 2010

Pachydermoperiostosis-critical analysis with report of five unusual cases

artículo científico publicado en 2007

Paper 6: EUROCAT member registries: organization and activities

artículo científico publicado en 2011

Parental age as a risk factor for isolated congenital malformations in a Polish population.

artículo científico publicado en 2009

Polish Registry of Congenital Malformations - aims and organization of the registry monitoring 300 000 births a year

artículo científico publicado en 2005

Prevalence and forms of congenital anomalies in twins born in Pomeranian District during the period from 1.07.1997 to 31.12.1998. Polish Register of Congenital Anomalies

scientific article published on 01 January 1998

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

artículo científico publicado en 2022

Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland

artículo científico publicado en 2014

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

scientific article published on 11 November 2020

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

artículo científico publicado en 2018

The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate

artículo científico publicado en 2015

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

artículo científico publicado en 2013

Trends in diagnosis and prevalence of critical congenital heart defects in the Podkarpacie province in 2002-2004, based on data from the Polish Registry of Congenital Malformations

artículo científico publicado en 2006

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

artículo científico publicado en 2016

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study

artículo científico publicado en 2017

Lista de obras de

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

Copy-number disorders are a common cause of congenital kidney malformations

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM).

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome

Genetic and Environmental Risk Factors for Isolated Hemangiomas in Infants

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM).

Hirschsprung's disease prevalence in Europe: a register based study

Insulin analogues use in pregnancy among women with pregestational diabetes mellitus and risk of congenital anomaly: a retrospective population-based cohort study

Maternal reproductive history and the risk of isolated congenital malformations.

Mutations in DSTYK and dominant urinary tract malformations

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Pachydermoperiostosis-critical analysis with report of five unusual cases

Paper 6: EUROCAT member registries: organization and activities

Parental age as a risk factor for isolated congenital malformations in a Polish population.

Polish Registry of Congenital Malformations - aims and organization of the registry monitoring 300 000 births a year

Prevalence and forms of congenital anomalies in twins born in Pomeranian District during the period from 1.07.1997 to 31.12.1998. Polish Register of Congenital Anomalies

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects

Spatial and temporal clustering of isolated cleft lip with or without cleft palate in Poland

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate

The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.

Trends in diagnosis and prevalence of critical congenital heart defects in the Podkarpacie province in 2002-2004, based on data from the Polish Registry of Congenital Malformations

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study