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Human Mutation 8
Showing records 1 to 8 | Display all abstracts in Human Mutation94937 Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Scelsi HF
Human Mutation 2021; 42: 903-946
95528 CNGB1-related rod-cone dystrophy: A mutation review and update
Nassisi M
Human Mutation 2021; 42: 641-666
94937 Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Barlow BM
Human Mutation 2021; 42: 903-946
95528 CNGB1-related rod-cone dystrophy: A mutation review and update
Smirnov VM
Human Mutation 2021; 42: 641-666
94937 Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Saccuzzo EG
Human Mutation 2021; 42: 903-946
95528 CNGB1-related rod-cone dystrophy: A mutation review and update
Solis Hernandez C; Mohand-Saïd S
Human Mutation 2021; 42: 641-666
94937 Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data
Lieberman RL
Human Mutation 2021; 42: 903-946
95528 CNGB1-related rod-cone dystrophy: A mutation review and update
Condroyer C; Antonio A; Kühlewein L; Kempf M; Kohl S; Wissinger B; Nasser F; Ragi SD; Wang NK; Sparrow JR; Greenstein VC; Michalakis S; Mahroo OA; Ba-Abbad R; Michaelides M; Webster AR; Degli Esposti S; Saffren B; Capasso J; Levin A; Hauswirth WW; Dhaenens CM; Defoort-Dhellemmes S; Tsang SH; Zrenner E; Sahel JA; Petersen-Jones SM; Zeitz C; Audo I
Human Mutation 2021; 42: 641-666
