Literature DB >> 15372525

Early development of occipital horns in a classical Menkes patient.

M Gérard-Blanluet, L Birk-Møller, I Caubel, A Gélot, T Billette de Villemeur, N Horn.   

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Year:  2004        PMID： 15372525     DOI： 10.1002/ajmg.a.30155

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Occipital horn syndrome in a woman: skeletal radiological findings.

Authors:  Alberto Bazzocchi; Rayka Femia; Paola Feraco; Giuseppe Battista; Romeo Canini; Giuseppe Guglielmi
Journal:  Skeletal Radiol       Date:  2011-05-08       Impact factor: 2.199

2.  Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

Authors:  Victor Murcia Pienkowski; Marzena Kucharczyk; Małgorzata Rydzanicz; Barbara Poszewiecka; Katarzyna Pachota; Marlena Młynek; Piotr Stawiński; Agnieszka Pollak; Joanna Kosińska; Katarzyna Wojciechowska; Monika Lejman; Agata Cieślikowska; Dorota Wicher; Agnieszka Stembalska; Karolina Matuszewska; Anna Materna-Kiryluk; Anna Gambin; Krystyna Chrzanowska; Małgorzata Krajewska-Walasek; Rafał Płoski
Journal:  J Clin Med       Date:  2020-04-25       Impact factor: 4.241
  2 in total

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