29 results on '"Zeidler, Shimriet"'
Search Results
2. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
3. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
4. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
5. Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
6. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
7. 5,10-methenyltetrahydrofolate synthetase deficiency:An extreme rare defect of folate metabolism in two Dutch siblings
8. 5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
9. Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice
10. CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
11. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
12. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features
13. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
14. Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
15. 5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings.
16. Translational endpoints in fragile X syndrome
17. The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
18. A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability
19. Fragiele-X-syndroom: Nieuwe therapeutische strategieën
20. Fragile X syndrome:New therapeutic strategies
21. Fragile X syndrome, the search for a targeted treatment
22. Fragile X Syndrome : the quest for targeted treatment
23. Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model
24. CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
25. Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model
26. Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously
27. EARLY PRENATAL DISRUPTION; A FOETUS WITH FEATURES OF SEVERE LIMB BODY WALL SEQUENCE, BODY STALK ANOMALY AND AMNIOTIC BANDS
28. The quest for targeted therapy in fragile X syndrome
29. Effect of open and closed endotracheal suctioning on cross-transmission with Gram-negative bacteria: A prospective crossover study*
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