Literature DB >> 29120062

Small patella syndrome: New clinical and molecular insights into a consistent phenotype.

C Vanlerberghe1,2, A-S Jourdain2,3, A Dieux1, A Toutain4, B Callewaert5, S Dupuis-Girod6, S Unger7, M Wright8, B Isidor9, J Ghoumid1,2, F Petit1,2, N Boutry2,10, F Escande2,3, S Manouvrier-Hanu1,2.   

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Year:  2017        PMID： 29120062     DOI： 10.1111/cge.13103

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing.

Authors:  Kendell German; Gail H Deutsch; Amanda S Freed; Katrina M Dipple; Shilpi Chabra; James T Bennett
Journal:  Am J Med Genet A       Date:  2019-03-03       Impact factor: 2.802

Review 2.  Molecular genetic framework underlying pulmonary arterial hypertension.

Authors:  Laura Southgate; Rajiv D Machado; Stefan Gräf; Nicholas W Morrell
Journal:  Nat Rev Cardiol       Date:  2019-08-12       Impact factor: 32.419
  2 in total

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