Clinical Genetics

Journal Abbreviation: CLIN GENET
ISSN: 0009-9163
Publisher: Wiley-Blackwell

Publications (15)

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Unpublished / Preprint

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Abstract

Skeletal abnormalities are common features in Ayme-Gripp syndrome (2019) Niceta M, Barbuti D, Gupta N, Ruggiero C, Tizzano EF, Graul-Neumann L, Barresi S, et al. Journal article Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement (2019) Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, et al. Journal article, Review article Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia (2019) Wohlfart S, Schneider H Journal article Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes (2019) Sinibaldi L, Parisi V, Lanciotti S, Fontana P, Kuechler A, Baujat G, Torres B, et al. Journal article Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues (2011) Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, et al. Journal article
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