Results 101 to 110 of about 314 (159)

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity. [PDF]

open access: yesMol Syndromol, 2015
Pajusalu S   +8 more
europepmc   +1 more source

Review of LCSH Recommendation Tool

open access: yesTCB: Technical Services in Religion & Theology
openaire   +1 more source

Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive renal calcium-wasting hypercalciuria. [PDF]

open access: yesEur J Hum Genet
Guleray Lafci N   +7 more
europepmc   +1 more source

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia. [PDF]

open access: yesMicroarrays (Basel), 2015
Nickerson SL   +11 more
europepmc   +1 more source

The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders. [PDF]

open access: yesHigh Throughput, 2018
Scionti F   +4 more
europepmc   +1 more source

Review of: Roberto, K. R. (2008) Radical Cataloging

open access: yesLibrary Ideas, 2008
Lacey Prpic Hedtke
doaj  

Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology. [PDF]

open access: yesPediatr Nephrol
Gupta A   +6 more
europepmc   +1 more source

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