Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Pawel Stankiewicz

Prenatal Diagnosis of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins

Journal of Pediatrics

English

A Small Recurrent Deletion Within 15q13.3 Is Associated With a Range of Neurodevelopmental Phenotypes

Nature Genetics

English

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

American Journal of Human Genetics

English

Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

Molecular Biology

Cancer Research

English

Redefined Genomic Architecture in 15q24 Directed by Patient Deletion/Duplication Breakpoint Mapping

English

A Syndrome of Short Stature, Microcephaly and Speech Delay Is Associated With Duplications Reciprocal to the Common Sotos Syndrome Deletion

European Journal of Human Genetics

English

Clinical Spectrum Associated With Recurrent Genomic Rearrangements in Chromosome 17q12

European Journal of Human Genetics

English