Documents (228) JSON TSV

source DB source ID text # proj. # Ann.
PubMed 1003450 Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and t 2 48 show
PubMed 10051003 Townes-Brocks syndrome. Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple 2 40 show
PubMed 10066029 Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Nevoid b 2 56 show
PubMed 10196695 Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Angelm 5 8 show
PubMed 10417280 Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, 4 8 show
PubMed 10440824 Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndr 8 40 show
PubMed 10482951 A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to spe 10 40 show
PubMed 10569966 Paediatric presentation of type 2 neurofibromatosis. BACKGROUND: Neurofibromatosis type 2 (NF2) is a 3 63 show
PubMed 10593995 Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van de 9 56 show
PubMed 10631923 Two cases of Townes-Brocks syndrome. Townes-Brocks syndrome (TBS) has been recognized as a dominant 10 72 show