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721 results on '"Dobyns, William B."'

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1. BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

2. Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome

3. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta

7. Spatial and cell type transcriptional landscape of human cerebellar development

8. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

9. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

10. DLG4-related synaptopathy: a new rare brain disorder

13. International consensus recommendations on the diagnostic work-up for malformations of cortical development

14. Redefining the Etiologic Landscape of Cerebellar Malformations

15. Undifferentiated psychosis or schizophrenia associated with vermis‐predominant cerebellar hypoplasia.

17. Neuropathology of brain and spinal malformations in a case of monosomy 1p36

18. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

19. G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

20. Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain

21. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

22. Primary brain calcification: an international study reporting novel variants and associated phenotypes

23. Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

26. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

28. Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

29. Consensus Paper: Cerebellar Development

33. ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy

34. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

36. Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate

37. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

39. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

40. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

44. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

45. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease

49. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

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