Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Jørgen Knudtzon"'
Autor:
Jørgen Knudtzon, Stephanie Knudtzon
Publikováno v:
Infectious diseases (London, England). 49(8)
To the Editor,We read with interest a recent report in this journal [1], describing a screening method of urine samples by flow cytometry in order to reduce the need of culture and thereby the work...
Publikováno v:
Clinical Genetics. 32:369-374
Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin facies. He developed severe microcephaly and cataract and died at
Autor:
Jørgen Knudtzon, Stephanie Knudtzon
Publikováno v:
Tidsskrift for Den norske legeforening. 137:603-603
Autor:
Jacques Loiselet, Paolo Simi, Giampiero I. Baroncelli, Véronique Tardy, L. Cinquanta, Anna Wedell, Birgitta Byström, Silvano Bertelloni, Yvonne Lundberg Giwercman, Eliane Chouery, Jan Alm, André Mégarbané, Angelika Mohn, Kristina Lindsten, Georges Halaby, Åke Pousette, Eliane Khallouf, Jørgen Knudtzon, Simona Rossi, Michaela F. Hartmann, Andrej Nikoshkov, Michal Svoboda, Stefan A. Wudy, Giuseppe Saggese, Yves Morel, Francesco Chiarelli, Valérie Delague, Francesca Santilli, Noëlle Souraty
Publikováno v:
Hormone Research in Paediatrics. 53:104-108
Autor:
Yvonne Lundberg Giwercman, L. Cinquanta, Angelika Mohn, Anna Wedell, Michal Svoboda, Véronique Tardy, Silvano Bertelloni, Stefan A. Wudy, Birgitta Byström, Giuseppe Saggese, Eliane Chouery, Yves Morel, Eliane Khallouf, Paolo Simi, Åke Pousette, Jacques Loiselet, Jørgen Knudtzon, Kristina Lindsten, Georges Halaby, Giampiero I. Baroncelli, Jan Alm, Francesco Chiarelli, Andrej Nikoshkov, Valérie Delague, Francesca Santilli, André Mégarbané, Michaela F. Hartmann, Simona Rossi, Noëlle Souraty
Publikováno v:
Hormone Research in Paediatrics. 53:89-103
Autor:
Yvonne Lundberg Giwercman, Åke Pousette, Jørgen Knudtzon, Birgitta Byström, Andrej Nikoshkov, Anna Wedell, Jan Alm, Kristina Lindsten
Publikováno v:
Hormone Research in Paediatrics. 53:83-88
The androgen insensitivity syndrome is a disorder caused by deficient function of the androgen receptor, characterized by varying degrees of undermasculinization in karyotypic males. We have identified four mutations in the androgen receptor gene, in
Publikováno v:
Clinical Genetics. 48:321-323
An apparently balanced de novo reciprocal translocation t(5;21) (q13;q22) was demonstrated in a girl with acrobrachycephaly, ventriculomegaly, pulmonary stenosis and anal malformation. The possible relationships between her karyotype and malformation
Autor:
Jørgen Knudtzon, Dagfinn Aarskog
Publikováno v:
Hormone Research. 39:7-17
The effects of treatment with human growth hormone (GH) for 2 years, followed by combined treatment with GH and oestradiol valerate, were studied in girls with Turner syndrome, aged 7.0-16.6 years. He
Publikováno v:
The Journal of pediatrics. 129(1)
OBJECTIVE: To determine the efficacy and safety of cholestyramine therapy in young children with familial hypercholesterolemia. SUBJECTS: Boys aged 6 to 11 years (n = 57) and girls aged 6 to 10 years (n = 39) with familial hypercholesterolemia. DESIG
Publikováno v:
Scandinavian journal of plastic and reconstructive surgery and hand surgery. 27(1)
A girl aged 3 1/2 years presented with cleft lip and palate, facial asymmetry, brachycephaly, persistent ductus arteriosus, vertebral defects, and progressive scoliosis. There was, however, no significant mental and growth retardation.