Results 171 to 180 of about 4,000 (206)

Detecting levels of autozygosity in two pure lines of pigs using genomic and pedigree data. [PDF]

, 2015
CAETANO, A. R., CANTAO, M. E., CARDOSO, F. F., FREITAS, L., LEDUR, M. C., OTAVIANO, A., PEIXOTO, J. de O., ZANELLA, R.   +7 more
core  

A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies. [PDF]

JBMR Plus
Al-Mutairi DA, Jarragh AA, Alsabah BH, Wein MN, Mohammed W, Alkharafi L.   +5 more
europepmc   +1 more source

Urinary renal epithelial cells can be used for NPHP1 phenotyping and a personalized therapeutic strategy. [PDF]

J Cell Sci
Sudhindar PD, Olinger E, Sentell ZT, Mabillard H, Dicka B, Wood K, Rutland D, Collins C, Trevisan-Herraz M, Sayer JA, Arcila-Galvis JE.   +10 more
europepmc   +1 more source

Germline Variant Call Accuracy in Whole Genome Sequence Data from Canine Formalin-Fixed Paraffin-Embedded Tissue Samples. [PDF]

Genes (Basel)
Jagannathan V, Leeb T.
europepmc   +1 more source

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations. [PDF]

Nat Genet
Chundru VK, Zhang Z, Walter K, Lindsay SJ, Danecek P, Eberhardt RY, Gardner EJ, Malawsky DS, Wigdor EM, Torene R, Retterer K, Wright CF, Ólafsdóttir H, Guillen Sacoto MJ, Ayaz A, Akbeyaz IH, Türkdoğan D, Al Balushi AI, Bertoli-Avella A, Bauer P, Szenker-Ravi E, Reversade B, McWalter K, Sheridan E, Firth HV, Hurles ME, Samocha KE, Ustach VD, Martin HC.   +28 more
europepmc   +1 more source

Type 1 early infantile epileptic encephalopathy: A case report and literature review. [PDF]

Mol Genet Genomic Med
Zaker E, Nouri N, Movahedinia M, Dadbinpour A, Vahidi Mehrjardi MY.   +4 more
europepmc   +1 more source

Parental Consanguinity and Family History in Relation to Psoriasis and the Role of Sex: A Case-Control Study.

Hum Hered
AlKhas AN, Ziyab AH.
europepmc   +1 more source

Proteomic and clinical impact of human knockouts in British South Asians

Carrasco Zanini J, Pietzner M, Koprulu M, Zoodsma M, Williamson A, Hunt KA, Manolias A, Walter K, Genes & Health Industry Consortium, Genes & Health Research Team, Martin HC, Finer S, van Heel DA, Langenberg C.   +13 more
europepmc   +1 more source

Exploring the Genetic Heritage of the Yucatán Black Hairless Pig: A Comparative Worldwide ROH Study. [PDF]

Vet Sci
Lara-Castillo JB, Lemus-Flores C, Sansor-Nah R, Michel-Regalado NG, Grageola-Núñez F, Burgos-Paz WO, Bugarín-Prado JO.   +6 more
europepmc   +1 more source

Accurate Runs of Homozygosity Estimation From Low Coverage Genome Sequences in Non-Model Species. [PDF]

Mol Ecol Resour
Taylor RS, Manseau M, Wilson PJ.
europepmc   +1 more source