Anna Sowińska Seidler


Ontology type: schema:Person     


Person Info

NAME

Anna

SURNAME

Sowińska Seidler

Publications in SciGraph latest 50 shown

  • 2019-04 Duplication of 10q24 locus: broadening the clinical and radiological spectrum in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-11 Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation in JOURNAL OF APPLIED GENETICS
  • 2018-08 Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation in JOURNAL OF APPLIED GENETICS
  • 2018-06 Noncoding copy-number variations are associated with congenital limb malformation in GENETICS IN MEDICINE
  • 2016-08 Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-07 Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency in JOURNAL OF HUMAN GENETICS
  • 2016-05 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 in JOURNAL OF HUMAN GENETICS
  • 2015-05 Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene in JOURNAL OF APPLIED GENETICS
  • 2014-12 Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families in ORPHANET JOURNAL OF RARE DISEASES
  • 2014-05 Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses in JOURNAL OF APPLIED GENETICS
  • 2014-02 Split-hand/foot malformation - molecular cause and implications in genetic counseling in JOURNAL OF APPLIED GENETICS
  • Affiliations

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