12 results on '"Scholz, Tasja"'
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2. Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans
3. Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype
4. Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen
5. Griscelli Syndrome Type 1: When the Hair Becomes Gray in Children
6. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
7. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy
8. De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
9. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
10. Pro-inflammatory cytokine ratios determine the clinical course of febrile neutropenia in children receiving chemotherapy
11. Innate immune responses to Stenotrophomonas maltophilia in immunocompromised pediatric patients and the effect of taurolidine
12. The modulatory effect of lipids and glucose on the neonatal immune response induced by Staphylococcus epidermidis
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