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51. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive.

52. Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

53. A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency.

54. Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

55. [EXOME ANALYSIS - A GAME CHANGER IN PEDIATRICS].

56. Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

57. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

58. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

59. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

60. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

61. Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

62. Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.

63. tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.

65. Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability.

66. Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

67. Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutation.

68. Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

69. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.

70. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

71. PARP10 deficiency manifests by severe developmental delay and DNA repair defect.

72. Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.

73. Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy.

74. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

75. Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.

76. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).

77. Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

78. Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

79. Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

80. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

81. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

82. A human laterality disorder caused by a homozygous deleterious mutation in MMP21.

83. Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.

84. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.

85. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.

86. Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.

87. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.

88. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

89. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

90. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

91. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

92. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

93. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

94. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

95. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.

96. West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.

97. Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

98. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter.

99. Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy.

100. West syndrome caused by ST3Gal-III deficiency.

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