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2. Re-focusing on Agnathia-Otocephaly complex

5. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

6. Implication of non-coding PAX6 mutations in aniridia

8. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

11. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

12. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis

13. Refining the phenotypic & mutational spectrum in a multinational cohort of O'Donnell-Luria-Rodan Syndrome

18. Re-focusing on Agnathia-Otocephaly complex

34. PORCN mutations in focal dermal hypoplasia: coping with lethality

35. Is the modification of the 13q32.1 regulatory landscape the cause of congenital microcoria?

37. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

38. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

40. FOXE3mutations: genotype-phenotype correlations

41. FOXE3 mutations: genotype-phenotype correlations

44. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

45. Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia

47. Self healing collodion baby

50. Genetics in microphthalmia

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