Results 111 to 120 of about 2,455 (150)

Recurrent acute liver failure and neutropenia caused by a novel homozygous RINT1 variant: a brief report of phenotypic expansion and population-specific findings. [PDF]

Hum Genomics
Nuzhnaya Е, Marakhonov A, Prokhorov N, Kan N, Rodina Y, Shcherbina A, Tsygankova P, Efremovа A, Semenova N.   +8 more
europepmc   +1 more source

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data. [PDF]

Biology (Basel)
Watson CM, Lascelles C, Raynor M, Elpidorou M, Hany U, Crinnion L, Johnson CA, Sheridan E, Markham AF, Poulter JA, Bonthron DT, Carr IM.   +11 more
europepmc   +1 more source

Initial Genome-Wide Characterization of Turkmen Individuals from the Dashoguz Region, Turkmenistan. [PDF]

Biology (Basel)
Zhaniyazov Z, Kulatayeva A, Mustafayeva A, Anapiyayev B, Iskakova K, Bissenov U, Kassymbekova A, Djansugurova L.   +7 more
europepmc   +1 more source

Genetic Diagnosis and Family Cascade Screening for Familial Hypercholesterolaemia in Patients with Premature Coronary Artery Disease: A Prospective Cohort Study from Vietnam. [PDF]

J Pers Med
Hoang SV, Nguyen KM, Tran HPN, Truong HP, Nguyen TN, Ly SQ.   +5 more
europepmc   +1 more source

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort. [PDF]

NPJ Genom Med
Vincke L, Van Schil K, Ahmadieh H, Moghaddasi A, Sabbaghi H, Daftarian N, Motevasseli T, Javanparast Sheykhani L, Dehghani M, Vahidi Mehrjardi MY, De Zaeytijd J, De Bruyne M, Mahieu Q, Al-Hajj E, Del Pozo-Valero M, Rosseel T, Van Heetvelde M, Maroofian R, Suri F, Bauwens M, De Baere E.   +20 more
europepmc   +1 more source

An analysis of the genomic architecture of the worldwide Irish Wolfhound dogs. [PDF]

Sci Rep
Bernini F, Marelli SP, Poli M, Strillacci MG.   +3 more
europepmc   +1 more source

Runs of homozygosity in Italian Holstein bulls: a permutation approach and time-based mapping of the genomic regions potentially under selection. [PDF]

BMC Genomics
Falchi L, Cesarani A, Brito LF, Mastrangelo S, Pauciullo A, Macciotta NPP, Gaspa G.   +6 more
europepmc   +1 more source

Genomic insights into the admixture and diversity of Kerala crossbred cattle. [PDF]

Sci Rep
Khan KD, Yadav A, Sahana VN, Alex R, Rajesh MV, KumarT S, Rajeev R, Das P, Vohra V, Gowane GR.   +9 more
europepmc   +1 more source

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder. [PDF]

Mov Disord
Schwarz C, Bartenschlager F, Kershaw O, Braun J, Guevar J, Jagannathan V, Epplen JT, Reineking W, Baumgärtner W, Bhatia KP, Gruber AD, Leeb T.   +11 more
europepmc   +1 more source

Diagnostic yield and variant spectrum of whole-exome sequencing in Iranian probands with congenital and early-onset ocular disorders. [PDF]

Mol Genet Metab Rep
Asadi A, Sadat Shandiz SA, Ebrahimi A, Hosseini ZS, Shirsalimi N, Neamatzadeh H, Ebrahimi A.   +6 more
europepmc   +1 more source