1,251 results on '"Dobyns, William B."'
Search Results
152. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene
153. The microcephaly-capillary malformation syndrome
154. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene
155. Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization
156. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
157. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
158. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C
159. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
160. Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis
161. Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
162. Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A)
163. Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
164. Genotype–phenotype correlation at codon 1740 ofSETD2
165. Spatial and single-cell transcriptional landscape of human cerebellar development
166. Defining the phenotypical spectrum associated with variants in TUBB2A
167. Activating variants inPDGFRBresult in a spectrum of disorders responsive to imatinib monotherapy
168. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly
169. Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain
170. Familial hydrocephalus with normal cognition and distinctive radiological features
171. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis
172. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?
173. Identification of genomic loci contributing to agenesis of the corpus callosum
174. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features
175. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
176. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome?
177. Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations
178. Duplication 2p16 is associated with perisylvian polymicrogyria
179. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature
180. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
181. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
182. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism
183. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia
184. A developmental and genetic classification for midbrain-hindbrain malformations
185. Significant Overlap and Possible Identity of Macrocephaly Capillary Malformation and Megalencephaly Polymicrogyria-Polydactyly Hydrocephalus Syndromes
186. A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family
187. A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation
188. Ethnically Diverse Causes of Walker-Warburg Syndrome (WWS): FCMD Mutations Are a More Common Cause of WWS Outside of the Middle East
189. Consistent Chromosome Abnormalities Identify Novel Polymicrogyria Loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2
190. No major role for the EMX2 gene in schizencephaly
191. Recurrent 16p11.2 microdeletions in autism
192. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
193. Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients
194. Brain anomalies in encephalocraniocutaneous lipomatosis
195. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
196. Truncation of NHEJ1 in a Patient With Polymicrogyria
197. The phenotypic spectrum of rapid-onset dystonia–parkinsonism (RDP) and mutations in the ATP1A3 gene
198. Doublecortin, a brain-specific gene mutated in human x-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
199. Cerebellar Ataxia With Progressive Improvement
200. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked
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