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805 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

4. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain

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

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

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

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

12. A dyadic approach to the delineation of diagnostic entities in clinical genomics

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

18. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

19. Redefining the Etiologic Landscape of Cerebellar Malformations

20. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

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

23. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

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

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

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

28. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

29. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

30. Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

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

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

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

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

36. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

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

40. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

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

43. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

44. A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

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

48. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

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

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