American journal of human genetics : AJHG

American journal of human genetics AJHG

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Bibliographische Detailangaben
Körperschaft: American Society of Human Genetics (Herausgebendes Organ)
Format: UnknownFormat
Sprache:eng
Veröffentlicht: New York, NY u.a. Cell Press 1949-
New York, NY Elsevier 1949-
Chicago, Ill. Univ. of Chicago Press anfangs
Schlagworte:
Zeitschrift > Humangenetik > Mensch > Vererbung > Genetik > Anthropologie > Physiologie > Medizin
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Titel Jahr Verfasser
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype 2010 Martinelli, Simone
Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1 2010 Lelij, Petra van der
Deletion and point mutations of PTHLH cause brachydactyly type E 2010
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder 2009 Waltes, Regina
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene 2004
Characterization of a novel brain specific transcript on human chromosome 20q1 2003 Worch, Sebastian
Molecular analysis of the 17q breakpoint of a patient with a translokation t(17;20(q25;q13) associated with SRS Molecular analysis of a translokation t(17;20(q25;q13) associated with Silver Russell syndromeS 2003
The importance of the BamHI-polymorphism in heparan sulphate proteoglycan 2 (HSPG2) for coronary atherosclerosis 2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect /L. L. Bachinski; B. Udd; G. Meola; V. Sansone; G. Bassez; B. Eymard; C. A. Thornton; R. T. Moxley; P. S. Harper; M. T. Rogers; K. Jurkat-Rott; F. Lehmann-Horn; T. Wieser; J. Gamez; C. Navarro; A. Bottani; A. Kohler; M. D. Shriver; R. Sallinen; M. Wessman; Sh. Zhang; F. A. Wright; R. Krahe 2003
Progressive epigenetic inactivation of RASSF1A in huma mammary epithelial cells 2003 Strunnikova, M.
Investigation of genotype frequenciese of candidate genes for coronary atherosclerosis in dependence of the sexual hormone status in female blood donors 2003
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