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Your search keyword '"Pedigree"' showing total 1,110 results

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1,110 results on '"Pedigree"'

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1. [Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene].

3. [First Report of a Family with Familial Hypocalciuric Hypercalcemia in Chile: Differential Diagnosis in a Patient with PTH-Dependent Hypercalcemia Post-Parathyroidectomy].

5. Evaluación de la consanguinidad y variabilidad genética del Caballo Peruano de Paso registrado en Ecuador

6. Quantitative genetic analysis for meat tenderness trait in Polled Nellore cattle

7. Parâmetros populacionais da raça ovina Santa Inês no Brasil

8. Population structure of Nellore cattle in northeastern Brazil

9. Dos zebus e seus clones: valor e pedigree em um mercado de elite

10. Niveles y efectos de la consanguinidad en variables de comportamiento durante la tienta y la lidia en dos ganaderías de reses bravas de Colombia Levels and effects of inbreeding on performance traits during tempt and fight from two fighting bull farms in Colombia

11. Histórico genético e populacional do rebanho Nelore Puro de Origem no Sertão Nordestino Genetic and populational background of Pure Nelore cattle breed in Brazilian Northeastern Sertão

12. Progresso genético e estrutura populacional do rebanho Nelore no Estado da Bahia Genetic progress and population structure in Nellore cattle in Bahia State, Brazil

13. [Congenital myotonia. Incidence and presentation of a series of cases].

14. Disostosis cleido-craneal: Estudio clínico, radiográfico y genético de una familia

15. Caracterización de la población bovina cebú con certificado de registro genealógico en Costa Rica

16. Caracterización de la población bovina cebú con certificado de registro genealógico en Costa Rica

17. Perspectives, Motivations and Interests in the Search for Genetic Ancestry in Buenos Aires, Argentina

18. Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation

19. Adverse reaction to food additives in a pediatric patient

21. CONSANGUINIDAD Y CENSO EFECTIVO DE POBLACIÓN EN LA RAZA OVINA DE LECHE LATXA CARA NEGRA

22. [Genogram and genealogical tree].

24. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.

25. Reconstructing pedigrees using RNA-seq data

28. Caracterización demográfica, genética y reproductiva de jaguares (Panthera onca) en cautiverio en parques zoológicos de Colombia

30. Trichorhinophalangeal syndrome.

31. [New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome].

32. [Inbreeding and serious mental illness in the first Spanish Bourbons].

33. [ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].

34. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.

36. Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

37. [Familial MECP2 duplication syndrome].

38. New mutation in the ACTA2 gene (p.Met84Val) in a family with nonsyndromic familial aortic aneurysms.

39. Breast cancer in six families from Tolima and Huila: BRCA1 3450del4 mutation

40. A new mutation affecting the converter region of the beta-myosin heavy chain related to hypertrophic cardiomyopathy with poor prognosis.

41. Transthyretin Cardiac Amyloidosis Due to Homozygous Val122Ile Mutation in a Caucasian Man.

42. Male patient 46,XX SRY-negative and unambiguous genitalia: A case report

44. Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.

45. A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death.

46. Classification of Pulmonary Arterial Hypertension by Genetic and Familial Testing.

47. [Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification].

49. Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.

50. Familial Brugada Syndrome Associated With a Complete Deletion of the SCN5A and SCN10A Genes.

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