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被引量: 0
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投稿须知/期刊简介:
Formerly Journal de Génétique Humaine founded in 1951 by Pr A. Franceschetti, M. Lamy and L. Van Bogaert, during 38 years this journal has published in French a large number of important contributions on different topics related to clinical and human genetics. With the aim of a broader international forum of contributors and readers the new editorial board decided to incorporate the Journal de Génétique Humaine in a new English language Journal: Genetic Counseling. During the past few years the impact of genetic counseling on individuals, couples and families confronted with different types of hereditary disorders, and/or congenital malformations has progressively become more important. Several reasons have contributed to this development, i.e. the advent of different genetic techniques and, even more important, the increasing interest of the public in diagnosis and prevention of genetic diseases. The purpose of Genetic Counseling, incorporating the Journal de Génétique Humaine, is to publish papers covering different topics and problems in the field. In addition to the medical aspects, much attention will be given to psychosocial and ethical problems.
期刊描述简介:
Formerly Journal de Génétique Humaine founded in 1951 by Pr A. Franceschetti, M. Lamy and L. Van Bogaert, during 38 years this journal has published in French a large number of important contributions on different topics related to clinical and human genetics. With the aim of a broader international forum of contributors and readers the new editorial board decided to incorporate the Journal de Génétique Humaine in a new English language Journal: Genetic Counseling. During the past few years the impact of genetic counseling on individuals, couples and families confronted with different types of hereditary disorders, and/or congenital malformations has progressively become more important. Several reasons have contributed to this development, i.e. the advent of different genetic techniques and, even more important, the increasing interest of the public in diagnosis and prevention of genetic diseases. The purpose of Genetic Counseling, incorporating the Journal de Génétique Humaine, is to publish papers covering different topics and problems in the field. In addition to the medical aspects, much attention will be given to psychosocial and ethical problems.
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Ring chromosome 8 with mosaic trisomy 8 syndrome in an infant.
被引量:- 发表:2013
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Mosaic trisomy 8 syndrome with a novel finding of ectopic kidney.
被引量:- 发表:2012
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Pure interstitial duplication of chromosome 7q (7q31.2-->q33) in a 4-year-old girl with growth restriction, short stature, speech delay and intellectual disability.
被引量:1 发表:2011
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Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.
被引量:2 发表:2009
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Turner syndrome and 45,X/47,XXX mosaicism.
被引量:1 发表:2009