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Documents (226) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 1003450 Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and t 551 Bytes 2015-10-31 3 48
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PubMed 10051003 Townes-Brocks syndrome. Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple 411 Bytes 2015-11-01 3 40
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PubMed 8145850 Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily. 1.13 KB 2017-03-28 2 0
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PubMed 8317476 Linkage analysis in familial Angelman syndrome. Familial Angelman syndrome (AS) can result from muta 1.41 KB 2015-11-27 3 0
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PubMed 10066029 Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Nevoid b 932 Bytes 2015-11-02 2 56
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PubMed 10196695 Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Angelm 958 Bytes 2015-11-15 5 8
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PubMed 10417280 Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, 1.49 KB 2015-11-21 4 8
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PubMed 10440824 Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndr 763 Bytes 2015-11-23 9 40
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PubMed 10482951 A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to spe 1.01 KB 2015-11-15 11 40
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PubMed 10593995 Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van de 1.16 KB 2015-11-21 10 56
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