34 papers found
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning
Cardiac involvement and CTG expansion in myotonic dystrophy
Unequal meiotic crossover: a frequent cause of NF1 microdeletions.
SSCP: a tool for contig building of duplicated genomic regions
Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family
Cohen syndrome: the clinical symptoms and stigmata at a young age
Diaphragmatic hernia in Denys-Drash syndrome
TP53 mutations are frequent in malignant NFI tumors
Ten base pair duplication in exon 38 of the NF1 gene
A compound nucleotide repeat in the neurofibro-matosis ( NF1 ) gene
NF1-related locus on chromosome 15
Molecular and cytogenetic analysis of tumors in von recklinghausen neurofibromatosis
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
Intraparenchymal meningioma in a 14-month-old infant: Case report
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