Search

Your search keyword '"Schallner, Jens"' showing total 46 results

Search Constraints

Start Over You searched for: Author "Schallner, Jens" Remove constraint Author: "Schallner, Jens"
46 results on '"Schallner, Jens"'

Search Results

1. Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

3. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

4. Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

5. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy

6. The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification

9. FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy

12. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2variants in 15 novel individuals

16. Defective X-gating caused byde novogain-of-function mutations inKCNK3underlies a developmental disorder with sleep apnea

17. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

18. Proximal variants inCCND2associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

19. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

21. Correction: Diagnostic value of partial exome sequencing in developmental disorders

23. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.

24. The clinical-phenotype continuum inDYNC1H1-related disorders-genomic profiling and proposal for a novel classification

25. Diagnostic value of partial exome sequencing in developmental disorders

27. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes.

28. Recurrent de novomissense variants in GNB2can cause syndromic intellectual disability

29. Gain-of-function mutations in KCNK3cause a developmental disorder with sleep apnea

30. Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

35. New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

36. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

37. STXBP1 encephalopathy

39. STXBP1encephalopathy

40. Mutations inEXOSC2are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

41. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.

42. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

44. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

45. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.

46. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Catalog

Books, media, physical & digital resources