advertisement
Chassaing N 12
Showing records 1 to 12 | Display all abstracts from Chassaing N124075 Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene
Sauvestre C
Cardiology in the young 2024; 0: 1-4
120562 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Erjavec E; Angée C
American Journal of Human Genetics 2024; 111: 2265-2282
124075 Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene
Boileau MJ
Cardiology in the young 2024; 0: 1-4
120562 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Hadjadj D
American Journal of Human Genetics 2024; 111: 2265-2282
124075 Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene
Caule C
Cardiology in the young 2024; 0: 1-4
120562 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Passet B
American Journal of Human Genetics 2024; 111: 2265-2282
124075 Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene
Griffiths D; Schrub F
Cardiology in the young 2024; 0: 1-4
120562 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
David P
American Journal of Human Genetics 2024; 111: 2265-2282
124075 Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene
Chassaing N
Cardiology in the young 2024; 0: 1-4
120562 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Kostic C; Dodé E
American Journal of Human Genetics 2024; 111: 2265-2282
124075 Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in gene
Rooryck C
Cardiology in the young 2024; 0: 1-4
120562 Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia
Zanlonghi X; Cagnard N; Nedelec B; Crippa SV; Bole-Feysot C; Zarhrate M; Creuzet S; Castille J; Vilotte JL; Calvas P; Plaisancié J; Chassaing N; Kaplan J; Rozet JM; Fares Taie L
American Journal of Human Genetics 2024; 111: 2265-2282
