Magdalena Badura‐Stronka

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 299 citations · Full text

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 119 citations · Full text

Tricho-rhino-phalangeal Syndrome, Genetics, Genetic Epidemiology +1

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

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

Anna Materna‐Kiryluk, Katarzyna Wiśniewska, Magdalena Badura‐Stronka et al. · Paediatric and Perinatal Epidemiology · 2008 · 78 citations

Fertility, Reproductive Health, Genetic Epidemiology +23

A novel nonsense mutation in <i>CUL4B</i> gene in three brothers with X‐linked mental retardation syndrome

Magdalena Badura‐Stronka, Aleksander Jamsheer, Anna Materna‐Kiryluk et al. · Clinical Genetics · 2009 · 54 citations

Developmental Anomaly, Severe Mental Retardation, Developmental Biology +15