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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossGRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel BlockersPluripotency of mesenchymal stem cells derived from adult marrowNeural induction of adult bone marrow and umbilical cord stem cells.Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.Circadian clock proteins regulate neuronal redox homeostasis and neurodegeneration.Neural differentiation and incorporation of bone marrow-derived multipotent adult progenitor cells after single cell transplantation into blastocyst stage mouse embryos.Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.Obituary: Jessica Anne Panzer, MD, PhD.De novo GABRG2 mutations associated with epileptic encephalopathies.NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.Ganglioglioma arising from dysplastic cortex.IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsβIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal NeuropathyIntraplantar injection of hyaluronic acid at low pH into the rat hindpaw produces tissue acidosis and enhances withdrawal responses to mechanical stimuliExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyA pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activityModeling Monogenic Diabetes using Human ESCs Reveals Developmental and Metabolic Deficiencies Caused by Mutations in HNF1AMitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromesExtension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
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description
onderzoeker
@nl
researcher
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հետազոտող
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name
Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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Xilma R Ortiz-Gonzalez
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P106
P31
P496
0000-0002-1710-4696