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PP-10 Phenotypic manifestations of copy number variation in chromosome 11p11.2-p11.12.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Clinical and genetic analysis of one late-onset family with Charcot-Marie-Tooth type 2A: Case report.
- Published in:
- Journal of Hainan Medical University, 2021, v. 27, n. 8, p. 61
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- Publication type:
- Article
Whole‐exome sequencing of T<sup>‐</sup>B<sup>+</sup> severe combined immunodeficiency in Egyptian infants, JAK3 predominance and novel variants.
- Published in:
- Clinical & Experimental Immunology, 2021, v. 203, n. 3, p. 448, doi. 10.1111/cei.13536
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- Publication type:
- Article
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia—A 15‐year follow‐up Study.
- Published in:
- Clinical Endocrinology, 2021, v. 94, n. 3, p. 399, doi. 10.1111/cen.14393
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- Publication type:
- Article
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 418, doi. 10.1111/cge.13903
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- Publication type:
- Article
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 3, p. 437, doi. 10.1111/cge.13897
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- Publication type:
- Article
Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 3, p. 992, doi. 10.1111/ene.14616
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- Publication type:
- Article
Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00134-3
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- Publication type:
- Article
A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00505-5
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- Publication type:
- Article
Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A.
- Published in:
- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.604715
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- Publication type:
- Article
Women and girls with haemophilia: Lessons learned.
- Published in:
- Haemophilia, 2021, v. 27, p. 75, doi. 10.1111/hae.14094
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- Publication type:
- Article
Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 286, doi. 10.1111/cge.13858
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- Publication type:
- Article
High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.631407
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- Publication type:
- Article
Evaluating the Clinical Utility of Genome Sequencing for Cytogenetically Balanced Chromosomal Abnormalities in Prenatal Diagnosis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.620162
- By:
- Publication type:
- Article
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.
- Published in:
- Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.605237
- By:
- Publication type:
- Article
Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.
- Published in:
- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.580357
- By:
- Publication type:
- Article
Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients—A Single-Center Experience in Genetic Diagnosis.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 2, p. 347, doi. 10.3390/jcm10020347
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- Publication type:
- Article
Exome sequencing in paediatric patients with movement disorders.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.630391
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- Publication type:
- Article
High miR-133a levels in the circulation anticipates presentation of clinical events in familial hypercholesterolaemia patients.
- Published in:
- Cardiovascular Research, 2021, v. 117, n. 1, p. 109, doi. 10.1093/cvr/cvaa039
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- Publication type:
- Article
Is gene panel sequencing more efficient than clinical‐based gene sequencing to diagnose autoinflammatory diseases? A randomized study.
- Published in:
- Clinical & Experimental Immunology, 2021, v. 203, n. 1, p. 105, doi. 10.1111/cei.13511
- By:
- Publication type:
- Article
Osteogenesis Imperfecta in neonatal period in Cameroon: A case report.
- Published in:
- Clinical Case Reports, 2021, v. 9, n. 1, p. 526, doi. 10.1002/ccr3.3572
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- Publication type:
- Article
Renal involvement and Strømme syndrome.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, p. 439, doi. 10.1093/ckj/sfz189
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- Publication type:
- Article
A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 1, p. 142, doi. 10.3390/diagnostics11010142
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- Publication type:
- Article
A Novel COX10 Deletion Polymorphism as a Susceptibility Factor for Sudden Cardiac Death Risk in Chinese Populations.
- Published in:
- DNA & Cell Biology, 2021, v. 40, n. 1, p. 10, doi. 10.1089/dna.2020.6086
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- Publication type:
- Article
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 1, p. 297, doi. 10.1111/ene.14514
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- Publication type:
- Article
Genetics of the congenital absence of the vas deferens.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 59, doi. 10.1007/s00439-020-02122-w
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- Publication type:
- Article
Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 113, doi. 10.1007/s00439-020-02148-0
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- Publication type:
- Article
The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 1, p. 243, doi. 10.1007/s10815-020-01986-1
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- Publication type:
- Article
Characterization of the Rate of Aortic Dilation in Young Patients with Thoracic Aortic Aneurysm.
- Published in:
- Pediatric Cardiology, 2021, v. 42, n. 1, p. 148, doi. 10.1007/s00246-020-02464-2
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- Publication type:
- Article
Proteus syndrome caused by novel somatic AKT1 duplication.
- Published in:
- Saudi Medical Journal, 2021, v. 42, n. 1, p. 95, doi. 10.15537/smj.2021.1.25618
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- Publication type:
- Article
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.603003
- By:
- Publication type:
- Article
Sanger Validation of High-Throughput Sequencing in Genetic Diagnosis: Still the Best Practice?
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.592588
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- Publication type:
- Article
An isolated hypogonadotropic hypogonadism male with a novel de novoFGFR1 mutation fathered a normal son evidenced by prenatal genetic diagnosis.
- Published in:
- Andrologia, 2020, v. 52, n. 11, p. 1, doi. 10.1111/and.13821
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- Publication type:
- Article
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 562, doi. 10.1111/cge.13848
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- Publication type:
- Article
Precision Medicine in Rare Diseases.
- Published in:
- Diseases, 2020, v. 8, n. 4, p. 42, doi. 10.3390/diseases8040042
- By:
- Publication type:
- Article
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2020, v. 277, n. 12, p. 3331, doi. 10.1007/s00405-020-06050-3
- By:
- Publication type:
- Article
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1474, doi. 10.3390/genes11121474
- By:
- Publication type:
- Article
Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1506, doi. 10.3390/genes11121506
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- Publication type:
- Article
Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.
- Published in:
- Molecular Biology Reports, 2020, v. 47, n. 12, p. 9279, doi. 10.1007/s11033-020-06014-0
- By:
- Publication type:
- Article
Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss.
- Published in:
- Hereditas, 2020, v. 157, n. 1, p. N.PAG, doi. 10.1186/s41065-020-00157-7
- By:
- Publication type:
- Article
Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01174-z
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- Publication type:
- Article
Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01168-x
- By:
- Publication type:
- Article
Incorporation of a Machine Learning Algorithm With Object Detection Within the Thyroid Imaging Reporting and Data System Improves the Diagnosis of Genetic Risk.
- Published in:
- Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.591846
- By:
- Publication type:
- Article
Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report.
- Published in:
- BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01157-0
- By:
- Publication type:
- Article
Identification of Genetic Biomarkers for Diagnosis of Myocardial Infarction Compared with Angina Patients.
- Published in:
- Cardiovascular Therapeutics, 2020, p. 1, doi. 10.1155/2020/8535314
- By:
- Publication type:
- Article
Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565078
- By:
- Publication type:
- Article
Genotype–phenotype correlation in children with hereditary spherocytosis.
- Published in:
- British Journal of Haematology, 2020, v. 191, n. 3, p. 486, doi. 10.1111/bjh.16750
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- Publication type:
- Article
DNMT3A 基因相关Tatton-Brown-Rahman 综合征1 例报道并文献复习.
- Published in:
- Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 10, p. 1114, doi. 10.7499/j.issn.1008-8830.2004078
- By:
- Publication type:
- Article
Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 499, doi. 10.1111/cge.13830
- By:
- Publication type:
- Article