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1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay-additional case and data's review

scientific article published on 19 November 2012

A girl with two syndromes: Turner syndrome and Costello syndrome. A case history

scientific article published on 23 April 2012

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

artículo científico publicado en 2011

History and molecular characteristics of a patient with terminal deletion of 14q. Is this another syndrome with a striking phenotype?

artículo científico publicado en 2012

Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF1 gene.

artículo científico publicado en 2014

Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype

artículo científico publicado en 2012

Molecular studies of Polish patients with respiratory chain complex I deficiency

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

artículo científico publicado en 2016

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

artículo científico publicado en 2015

Phenotype expansion and development in Kosaki Overgrowth Syndrome

artículo científico publicado en 2017

Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene

artículo científico publicado en 2020

Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation

artículo científico publicado en 2016

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

artículo científico publicado en 2014

The new molecular p.M177T identified in two unrelated patients with clinical features of SCO2-dependent cytochrome c oxidase deficiency

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