Výsledky vyhledávání - "H F, Swanenburg De Veye"

Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development

Autor: M G, Ausems, H G, Van Spijker, H J, Dijkhuis, H F, Swanenburg De Veye, J B, Bijlsma

Publikováno v: Genetic counseling (Geneva, Switzerland). 7(1)

A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with menta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7db7d974f68418bd66fb64f1adbf0e09
https://pubmed.ncbi.nlm.nih.gov/8652090

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A child of high intelligence with the Johanson-Blizzard syndrome

Autor: H F, Swanenburg de Veye, J A, Heineman-de-Boer, F A, Beemer

Publikováno v: Genetic counseling (Geneva, Switzerland). 2(1)

In this article, a boy is presented with the Johanson-Blizzard syndrome and high intelligence. In the literature, a wide range of intellectual abilities of children with the Johanson-Blizzard syndrome is reported. To obtain optimal conditions for the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3fe8fe81c51d38da1007388e4e32e39f
https://pubmed.ncbi.nlm.nih.gov/1741972

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