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Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.702374
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- Article
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.
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- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.577046
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- Article
A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome.
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- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 4, p. 419, doi. 10.4274/jcrpe.galenos.2019.2018.0220
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- Article
Research on microstructure and rheological properties of recyclable NaOA/Na3PO4 viscoelastic micelle fracturing fluid.
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- Oil Drilling & Production Technology / Shiyou Zuancai Gongyi, 2014, v. 36, n. 6, p. 60, doi. 10.13639/j.odpt.2014.06.015
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- Article
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
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- 2014
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- Publication type:
- journal article
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-15
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- Article
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.
- Published in:
- 2013
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- Publication type:
- journal article
Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00646-0
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- Article
99 % yield biodiesel production from rapeseed oil using benzyl bromide-CaO catalyst.
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- Environmental Chemistry Letters, 2013, v. 11, n. 2, p. 203, doi. 10.1007/s10311-013-0403-9
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- Article
Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1143
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- Article
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
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- Journal of Human Genetics, 2014, v. 59, n. 10, p. 563, doi. 10.1038/jhg.2014.73
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- Article
Direct Henry reactions with modified calcium oxide as solid catalyst.
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- Research on Chemical Intermediates, 2013, v. 39, n. 8, p. 3715, doi. 10.1007/s11164-012-0875-4
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- Article
Rapid detection of glycogen storage disease type Ia by DNA microarray.
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- Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 9, p. 1229, doi. 10.1515/CCLM.2010.244
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- Article
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 510, doi. 10.1002/ajmg.a.38025
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- Article
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1347, doi. 10.1002/ajmg.a.37590
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- Article
Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 515, doi. 10.1002/ajmg.a.37454
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- Article
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2300, doi. 10.1002/ajmg.a.37147
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- Article
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
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- Scientific Reports, 2017, p. 44536, doi. 10.1038/srep44536
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- Article
Impaired Glucose Tolerance in a Mouse Model of Sidt2 Deficiency.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066139
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- Article
Elevated Bile Acids in Newborns with Biliary Atresia (BA).
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049270
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- Article
Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022951
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- Article
Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level.
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- Biochemical Genetics, 2009, v. 47, n. 11/12, p. 868, doi. 10.1007/s10528-009-9286-7
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- Article
Characteristics of Pompe disease in China: a report from the Pompe registry.
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- 2019
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- Publication type:
- journal article
Synthesis of Alkyl Aliphatic Hydrazine and Application in Crude Oil as Flow Improvers.
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- Energies (19961073), 2021, v. 14, n. 15, p. 4703, doi. 10.3390/en14154703
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- Article
An intronic variant disrupts mRNA splicing and causes FGFR3-related skeletal dysplasia.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 10, p. 1323, doi. 10.1515/jpem-2020-0679
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- Article
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
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- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 8, p. 927, doi. 10.1515/jpem-2018-0088
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- Publication type:
- Article
Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 4, p. 463, doi. 10.1515/jpem-2016-0333
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- Publication type:
- Article
Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population.
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- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 5/6, p. 433, doi. 10.1515/jpem-2012-0343
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- Publication type:
- Article
Late-onset cblC defect: clinical, biochemical and molecular analysis.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02890-4
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- Article
Modified calcium oxide as stable solid base catalyst for Aldol condensation reaction.
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- Journal of Chemical Sciences, 2013, v. 125, n. 2, p. 313, doi. 10.1007/s12039-013-0362-5
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- Article
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01010-4
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- Article
Identification of RUNX2 variants associated with cleidocranial dysplasia.
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- Hereditas, 2019, v. 156, n. 1, p. N.PAG, doi. 10.1186/s41065-019-0107-7
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- Article
Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes.
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- Advanced Science, 2024, v. 11, n. 15, p. 1, doi. 10.1002/advs.202305701
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- Article
Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00616
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- Article
Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00496
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- Publication type:
- Article
Comparative evaluation of short-term biomarker response to treatment for growth hormone deficiency in Chinese children with growth hormone deficiency born small for or appropriate for gestational age: a randomized phase IV open-label study.
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- Therapeutic Advances in Endocrinology & Metabolism, 2013, v. 4, n. 2, p. 41, doi. 10.1177/2042018813484051
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- Article
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.
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- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0368-4
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- Article
Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
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- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0298-6
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- Article
Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy.
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- Metabolic Brain Disease, 2021, v. 36, n. 8, p. 2405, doi. 10.1007/s11011-021-00818-0
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- Article
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02656-y
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- Publication type:
- Article
High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.
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- Clinical Chemistry, 2020, v. 66, n. 3, p. 455, doi. 10.1093/clinchem/hvz033
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- Article
Preparation and Application of New Polyhydroxy Ammonium Shale Hydration Inhibitor.
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- Processes, 2023, v. 11, n. 11, p. 3102, doi. 10.3390/pr11113102
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- Article
Research and Evaluation of Foam-Drainage Corrosion-Inhibition Hydrate Anti-Aggregation Integrated Agent.
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- Processes, 2023, v. 11, n. 9, p. 2745, doi. 10.3390/pr11092745
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- Article
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
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- Clinical Genetics, 2023, v. 103, n. 6, p. 655, doi. 10.1111/cge.14329
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- Article
Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools.
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- Clinical Genetics, 2023, v. 103, n. 2, p. 190, doi. 10.1111/cge.14257
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- Article
Synthesis of New Hydrazone Compounds from Natural Grease and Investigation as Flow Improver for Crude Oil.
- Published in:
- Petroleum Chemistry, 2023, v. 63, n. 5, p. 553, doi. 10.1134/S0965544123040060
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- Article
Performance and Mechanism of Span Surfactants as Clean Flow Improvers for Crude Oil.
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- Petroleum Chemistry, 2020, v. 60, n. 1, p. 140, doi. 10.1134/S0965544120010156
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- Article
Synthesis and Investigation of a Spiro Diborate as a Clean Viscosity-Reducer and Pour Point Depressor for Crude Oil.
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- Petroleum Chemistry, 2019, v. 59, n. 6, p. 570, doi. 10.1134/S0965544119060161
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- Article
Preparation and Performance of Vegetable Oils Fatty Acids Hydroxylmethyl Triamides as Crude Oil Flow Improvers.
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- Petroleum Chemistry, 2018, v. 58, n. 12, p. 1070, doi. 10.1134/S0965544118120046
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- Publication type:
- Article
Zn(II) Complex Catalyzed Coupling Aquathermolysis of Water-Heavy Oil-Methanol at Low Temperature.
- Published in:
- Petroleum Chemistry, 2018, v. 58, n. 3, p. 197, doi. 10.1134/S0965544118030039
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- Article