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1. Five years’ experience of the clinical exome sequencing in a Spanish single center

2. Inherited Retinal Dystrophies in Spain: three decades of epidemiological, clinical, and genetic study

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Books, media, physical & digital resources

3. Genomic Landscape of Sporadic Retinitis Pigmentosa

4. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

5. Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

6. Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants

7. 56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH

8. Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

9. Guía para el estudio genético de la aniridia

10. Guidelines for genetic study of aniridia

11. Síndrome de Holt-Oram: descripción de 7 casos

12. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience

13. Two Non-Contiguous Duplications in theDMDGene in a Spanish Family

14. Clinical presentation of a variant of Axenfeld–Rieger syndrome associated with subtelomeric 6p deletion

15. Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach

16. Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism

17. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

18. Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters

19. Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family

20. Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs

21. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR

22. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

23. Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

24. Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child

25. Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

26. New type of mutations in three spanish families with choroideremia

27. Prenatal diagnosis of 46, XX male fetus

28. New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

29. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR

30. Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

31. Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations

34. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

35. Five years' experience of the clinical exome sequencing in a Spanish single center.

36. Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations.

37. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

38. Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

39. Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

40. Guidelines for genetic study of aniridia.

41. Microdeletion found by array-CGH in girl with blepharophimosis syndrome and apparently balanced translocation t(3;15)(q23;q25).

42. Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.

43. Two non-contiguous duplications in the DMD gene in a Spanish family.

45. Gene symbol: EPM2A.

46. Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

47. Prenatal diagnosis of 46, XX male fetus.

48. New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation.

49. Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.

50. Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.