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4. Cerebral small vessel disease genomics and its implications across the lifespan

5. A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

10. Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

15. Analysis of shared heritability in common disorders of the brain

16. Association Between Germline Mutations in &ITBRF1&IT, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

17. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

18. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

19. Analysis of shared heritability in common disorders of the brain

20. Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

21. Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

22. Monogene Adipositas

23. Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

24. Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine (vol 48, pg 856, 2016)

25. Correction: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

28. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

29. Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene

30. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

32. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

34. Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/ MOPD II families

35. Hearing impairment and congenital goitrous hypothyroidism - Pendred syndrome?

36. BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.

37. Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

38. Genome-wide meta-analysis identifies new susceptibility loci for migraine

39. A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

41. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

42. O1 – 1990 Clinical spectrum of dopamine transporter deficiency syndrome: from infantile parkinsonism-dystonia to juvenile parkinsonism

43. Schwerhörigkeit, congenitale Hypothyreose und Struma - Pendred-Syndrom?

46. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

48. Systematic characterization of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletion and candidate regions for mental retardation genes.

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