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4. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

5. Severe Osteogenesis imperfecta with oligodontia: think of MESD

7. Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

8. Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation

9. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with 'Corner Fractures'

10. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

12. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

13. Synchron rekurrierende Late-onset-Sepsis durch Gruppe B-Streptokokken bei Zwillingsfrühgeborenen

14. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

18. RNase MRP is a novel regulator of endochondral ossification

20. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

21. Mutations in WNT1 cause different forms of bone fragility

22. Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP

27. Trastuzumab therapy vs tetracycline controlled ERBB2 downregulation: influence on tumour development in an ERBB2-dependent mouse tumour model

29. Oncogene-Blocking Therapies: New Insights from Conditional Mouse Tumor Models

34. Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

36. Novel GNE Gene Variants Associated with Severe Congenital Thrombocytopenia and Platelet Sialylation Defect.

37. Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts.

38. Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.

39. Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.

40. Screening for hypophosphatasia: does biochemistry lead the way?

41. A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome.

42. Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment.

43. Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.

44. Unsuccessful intravenous D-mannose treatment in PMM2-CDG.

45. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

46. Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

47. A common pathomechanism in GMAP-210- and LBR-related diseases.

48. Genetic analysis of adults heterozygous for ALPL mutations.

49. Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

50. Corrigendum: Clinical and Molecular Heterogeneity of RTEL1 Deficiency.

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