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1. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

4. Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

5. Loss of ADAM17 is associated with severe multiorgan dysfunction

6. Variants in CUL4B are Associated with Cerebral Malformations

7. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

8. PRRT2-related phenotypes in patients with a 16p11.2 deletion

9. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

10. Germline AGO2 mutations impair RNA interference and human neurological development

11. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

12. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

13. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

14. The genetic basis of DOORS syndrome: an exome-sequencing study

16. NOVEL MUC1 VARIANT IDENTIFIED BY MASSIVELY PARALLEL SEQUENCING EXPLAINS INTERSTITIAL KIDNEY DISEASE IN A LARGE DUTCH FAMILY

17. MO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

18. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

20. Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

22. Central 22q11.2 deletions

23. Mutations in RARS cause hypomyelination

25. Biallelic loss-of-function variants in RABGAP1cause a novel neurodevelopmental syndrome

27. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

30. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

32. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

33. Mutations in Two Regions of FLNB Result in Atelosteogenesis I and III

34. GRIN2A-related disorders : genotype and functional consequence predict phenotype

35. PRRT2-related phenotypes in patients with a 16p11.2 deletion

36. GRIN2A-related disorders: genotype and functional consequence predict phenotype

37. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (vol 102, pg 995, 2018)

40. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction

41. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

42. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

43. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

44. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

46. Haploinsufficiency of PRR12causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

47. Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

48. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

49. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

50. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

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