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LUPSKI, JAMES
One or more keywords matched the following items that are connected to
LUPSKI, JAMES
Item Type
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Academic Article
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Academic Article
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
Concept
Turkey
Academic Article
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Academic Article
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
Academic Article
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Academic Article
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.
Academic Article
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Academic Article
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Search Criteria
Turkey