Works matching IS 00099163 AND DT 2024 AND VI 105 AND IP 1
Results: 15
Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 13, doi. 10.1111/cge.14446
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Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 106, doi. 10.1111/cge.14444
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The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 62, doi. 10.1111/cge.14437
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Genetic backgrounds and diagnosis of familial hypercholesterolemia.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 3, doi. 10.1111/cge.14435
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Genetic testing and gene therapy in retinal diseases: Knowledge and perceptions of optometrists in Australia and New Zealand.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 34, doi. 10.1111/cge.14415
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Exploring factors impacting haplotype‐based noninvasive prenatal diagnosis for single‐gene recessive disorders.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 52, doi. 10.1111/cge.14434
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Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 109, doi. 10.1111/cge.14430
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Novel MEIOB pathogenic variants including a homozygous non‐canonical splicing variant, cause meiotic arrest and human non‐obstructive azoospermia.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 99, doi. 10.1111/cge.14426
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Human phenotype caused by biallelic KDM4B frameshift variant.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 72, doi. 10.1111/cge.14409
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Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 87, doi. 10.1111/cge.14419
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CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 44, doi. 10.1111/cge.14432
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Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 81, doi. 10.1111/cge.14414
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A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 77, doi. 10.1111/cge.14411
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Delineating the phenotype of PNPLA8‐related mitochondriopathies.
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- Clinical Genetics, 2024, v. 105, n. 1, p. 92, doi. 10.1111/cge.14421
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Issue Information.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 1, p. 1, doi. 10.1111/cge.14366
- Publication type:
- Article