advertisement

---

European Journal of Human Genetics 18

Showing records 1 to 18 | Display all abstracts in European Journal of Human Genetics

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---

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

---