Výsledky vyhledávání - "C. F. C. H. Assman-Hulsmans"

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Autor: G.H.J. Thoonen, T. Van Roosmalen, Dominique Smeets, B. Van Den Helm, Edwin C. M. Mariman, Hannie Kremer, C. F. C. H. Assman-Hulsmans, Nine V A M Knoers, Arie P. T. Smits, B.C.J. Hamel, H.H. Ropers

Publikováno v: American Journal of Medical Genetics. 85:290-304

Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f569628cac8e0662fa08390381728978
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<290::aid-ajmg21>3.0.co

Zobrazit plný text záznamu

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression

Autor: C.J.A.M. van der Burgt, Han G. Brunner, C. F. C. H. Assman-Hulsmans, F.J.M. Gabreëls, B.J. Otten, G.H.J. Thoonen, N. Roosenboom

Publikováno v: Journal of Pediatrics, 135, 707-713
Journal of Pediatrics, 135, 6, pp. 707-713

Objective: To evaluate the cognitive profiles of children with Noonan syndrome (NS) and to relate these profiles to measures of overall clinical severity. Study design: Thirty-five children with NS between the ages of 7 and 18 years were tested on th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9a68e3cc4698dc80915ac9856cd421
https://doi.org/10.1016/S0022-3476(99)70089-2

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání