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European Journal of Human Genetics 17

Showing records 1 to 17 | Display all abstracts in European Journal of Human Genetics

61310 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Deml B
European Journal of Human Genetics 2016; 24: 535-541

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Medina-Trillo C
European Journal of Human Genetics 2016; 24: 672-680

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61780 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Ghoumid J; Petit F
European Journal of Human Genetics 2016; 24: 44-50

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Aroca-Aguilar JD
European Journal of Human Genetics 2016; 24: 672-680

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61310 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Reis LM
European Journal of Human Genetics 2016; 24: 535-541

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61780 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Holder-Espinasse M
European Journal of Human Genetics 2016; 24: 44-50

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Méndez-Hernández CD
European Journal of Human Genetics 2016; 24: 672-680

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61310 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Lemyre E
European Journal of Human Genetics 2016; 24: 535-541

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Morales L
European Journal of Human Genetics 2016; 24: 672-680

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61310 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Clark RD
European Journal of Human Genetics 2016; 24: 535-541

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61780 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Jourdain AS; Guerra J
European Journal of Human Genetics 2016; 24: 44-50

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
García-Antón M
European Journal of Human Genetics 2016; 24: 672-680

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61310 Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Kariminejad A; Semina EV
European Journal of Human Genetics 2016; 24: 535-541

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
García-Feijoo J
European Journal of Human Genetics 2016; 24: 672-680

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61780 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Dieux-Coeslier A
European Journal of Human Genetics 2016; 24: 44-50

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61522 Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences
Escribano J
European Journal of Human Genetics 2016; 24: 672-680

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61780 Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
Figeac M; Porchet N; Manouvrier-Hanu S; Escande F
European Journal of Human Genetics 2016; 24: 44-50

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