560 results on '"Ferreira, Carlos R."'
Search Results
152. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
153. Cover Image, Volume 176A, Number 5, May 2018
154. Williams–Beuren syndrome in diverse populations
155. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
156. Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature
157. Recognizable phenotypes in CDG
158. The role of the clinician in the multi-omics era: are you ready?
159. Disorders of metal metabolism
160. Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia
161. List of Contributors
162. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency
163. Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries
164. Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease
165. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase
166. Lysosomal storage diseases
167. Biotin‐thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next‐generation sequencing data
168. 22q11.2 deletion syndrome in diverse populations
169. Cover Image, Volume 173A, Number 4, April 2017
170. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B
171. Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data
172. Phenotype and mutation expansion of the PTPN23associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
173. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
174. CIAO1and MMS19deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders
175. Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum
176. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.
177. Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency.
178. List of Contributors
179. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
180. Defective ciliogenesis in INPP5E-related Joubert syndrome.
181. A proposed nosology of inborn errors of metabolism
182. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
183. Using institutional theory to improve results in an industrial company
184. Cerebral Lipid Accumulation Detected by MRS in a Child with Carnitine Palmitoyltransferase 2 Deficiency: A Case Report and Review of the Literature on Genetic Etiologies of Lipid Peaks on MRS.
185. Response to Stern et al.
186. Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
187. The Interrelation between Casting Size, Steel Grade, and Temperature Evolution Along the Mold Length and at the Strand Surface during Continuous Casting of Steel
188. Modified interpolation of LSFs based on optimization of distortion measures
189. A solidification heat transfer model and a neural network based algorithm applied to the continuous casting of steel billets and blooms
190. Response of enthesopathy in ENPP1 deficiency to enzyme replacement therapy in murine models and enthesopathy comorbidities and quality of life in ENPP1‐deficient adults.
191. Systematic characterization of enzyme activity on ENPP1 deficiency disease phenotype.
192. Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes.
193. Inherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.
194. Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.
195. Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report.
196. The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
197. Mevalonic aciduria: Does stem cell transplant fully cure disease?
198. Pilot study to evaluate the safety and effectiveness of etidronate treatment for arterial calcification due to deficiency of CD73 (ACDC).
199. Utilizacao do metodo nodal absorcao-producao em calculos de distribuicoes de fluxo de neutrons e de potencia em uma dimensao e um grupo de energia
200. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
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