Rubinstein-Taybi Syndrome in a 19-years old boy.

Zwierzchowski T, Przedborska A, Wilmańska I, Raczkowski J.

Case Reports 2015; 36(5): 417-420 PubMed PMID: 26707040 Keywords: Abnormalities, Multiple, CREB-Binding Protein:genetics, Craniofacial Abnormalities, Foot Deformities, Hand Deformities, Humans, Male, Microcephaly, Rubinstein-Taybi Syndrome:diagnosis, Thyrotropin:metabolism, Thyroxine:metabolism, Triiodothyronine:metabol.

INTRODUCTION: Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphis.....

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Edwards syndrome in a 6-year old girl.

Raczkowski J, Daniszewska B, Paradecka A.

Case Reports 2010; 31(1): 43-46 PubMed PMID: 20150875 Keywords: Abnormalities, Multiple:diagnosis, Child, Chromosomes, Human, Pair 18, Developmental Disabilities:diagnosis, Female, Humans, Syndrome, Trisomy:diagnosis,.

: Trisomy 18 (Edwards syndrome - ES) is the second most common trisomy. It occurs in 1/3 000 to 1/8 000 births. ES is a cause of numerous .....

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The concentrations of testosterone and estradiol in girls with adolescent idiopathic scoliosis.

Raczkowski J.

Journal Article 2007; 28(3): 302-304 PubMed PMID: 17627266 Keywords: Adolescent, Child, Estradiol:blood, Female, Humans, Scoliosis:blood, Testosterone:blood,.

AIM: The role of hormones in development and progression of scoliosis, although suggested, remains unclear. The purpose of this study was .....

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Articles by author - Jan W Raczkowski

Rubinstein-Taybi Syndrome in a 19-years old boy.

Edwards syndrome in a 6-year old girl.

The concentrations of testosterone and estradiol in girls with adolescent idiopathic scoliosis.