Works matching IS 00099163 AND DT 2019 AND VI 95 AND IP 2
Results: 22
Phenotero: Annotate as you write.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 287, doi. 10.1111/cge.13471
- By:
- Publication type:
- Article
Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 320, doi. 10.1111/cge.13482
- By:
- Publication type:
- Article
Genetics meets DNA methylation in rare diseases.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 210, doi. 10.1111/cge.13480
- By:
- Publication type:
- Article
Genetic risk score modifies the effect of APOE on risk and age onset of Alzheimer's disease.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 302, doi. 10.1111/cge.13479
- By:
- Publication type:
- Article
Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
- Published in:
- 2019
- By:
- Publication type:
- Correction Notice
Preferences for in‐person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 293, doi. 10.1111/cge.13474
- By:
- Publication type:
- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
- By:
- Publication type:
- Article
Fragile X syndrome and connective tissue dysregulation.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 262, doi. 10.1111/cge.13469
- By:
- Publication type:
- Article
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 339, doi. 10.1111/cge.13466
- By:
- Publication type:
- Article
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 325, doi. 10.1111/cge.13465
- By:
- Publication type:
- Article
Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Biallelic mutations in PMFBP1 cause acephalic spermatozoa.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 277, doi. 10.1111/cge.13461
- By:
- Publication type:
- Article
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 334, doi. 10.1111/cge.13456
- By:
- Publication type:
- Article
Complex effects of laminopathy mutations on nuclear structure and function.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 199, doi. 10.1111/cge.13455
- By:
- Publication type:
- Article
Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 329, doi. 10.1111/cge.13453
- By:
- Publication type:
- Article
Linking genetics to epigenetics: The role of folate and folate‐related pathways in neurodevelopmental disorders.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 241, doi. 10.1111/cge.13421
- By:
- Publication type:
- Article
Issue Information ‐ Editorial Board.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 187, doi. 10.1111/cge.13394
- Publication type:
- Article
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 268, doi. 10.1111/cge.13375
- By:
- Publication type:
- Article
Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 231, doi. 10.1111/cge.13365
- By:
- Publication type:
- Article
Three‐dimensional genome architecture in health and disease.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 189, doi. 10.1111/cge.13219
- By:
- Publication type:
- Article
Clinician's guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 221, doi. 10.1111/cge.13153
- By:
- Publication type:
- Article
Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 253, doi. 10.1111/cge.13127
- By:
- Publication type:
- Article