Výsledky vyhledávání - "Shabeer Padariyakam"

Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Autor: Lihadh Al-Gazali, Sehba Naveed, Sabita K. Murthy, Preenu S Jacob, Sara Mani, R Pramathan, Shabeer Padariyakam, Mahmoud Taleb Al-Ali, Ashok K. Malhotra, Eman Em Al-Rowaished, Ravi Nath

Publikováno v: Molecular Cytogenetics
Molecular Cytogenetics, Vol 1, Iss 1, p 19 (2008)

Background Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from normal to extremely mild or sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bcaad4d1a7145b437855e1774fcff22

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