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1. Improving access to exome sequencing in a medically underserved population through the Texome Project

2. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

4. Identifying potential dietary treatments for inherited metabolic disorders using Drosophila nutrigenomics

5. De novo variants in DENND5B cause a neurodevelopmental disorder

6. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

7. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

8. Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

9. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

10. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

11. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

12. A comprehensive Drosophila resource to identify key functional interactions between SARS-CoV-2 factors and host proteins

14. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

15. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

17. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy

18. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

19. De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

20. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

22. Regulation of Drosophila oviduct muscle contractility by octopamine

23. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

24. Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures

25. eP410: De novo missense variants in DDX39B cause a novel syndrome characterized by neurodevelopmental delay, short stature and congenital hypotonia

26. eP090: Precision medicine modelling for undiagnosed and rare disease

29. One is the loneliest number: genotypic matchmaking using the electronic health record

30. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

31. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

32. Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function

36. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

37. Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

38. De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

39. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

40. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

41. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

42. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

43. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

44. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

46. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

47. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

48. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

49. cindr, the Drosophila Homolog of the CD2AP Alzheimer’s Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis

50. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

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