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Human Mutation 10
Showing records 1 to 10 | Display all abstracts in Human Mutation73485 Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree
Hendee K
Human Mutation 2017; 38: 1485-1490
73045 Haplotype reference consortium panel: Practical implications of imputations with large reference panels
Iglesias AI
Human Mutation 2017; 38: 1025-1032
73485 Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree
Wang LW
Human Mutation 2017; 38: 1485-1490
73045 Haplotype reference consortium panel: Practical implications of imputations with large reference panels
van der Lee SJ; Bonnemaijer PWM
Human Mutation 2017; 38: 1025-1032
73485 Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree
Reis LM
Human Mutation 2017; 38: 1485-1490
73045 Haplotype reference consortium panel: Practical implications of imputations with large reference panels
Höhn R
Human Mutation 2017; 38: 1025-1032
73485 Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree
Rice GM; Apte SS
Human Mutation 2017; 38: 1485-1490
73045 Haplotype reference consortium panel: Practical implications of imputations with large reference panels
Nag A; Gharahkhani P
Human Mutation 2017; 38: 1025-1032
73485 Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree
Semina EV
Human Mutation 2017; 38: 1485-1490
73045 Haplotype reference consortium panel: Practical implications of imputations with large reference panels
Khawaja AP; Broer L; ; Foster PJ; Hammond CJ; Hysi PG; van Leeuwen EM; Macgregor S; Mackey DA; Mazur J; Nickels S; Uitterlinden AG; Klaver CCW; Amin N; Van Duijn CM
Human Mutation 2017; 38: 1025-1032
