Works matching IS 00099163 AND DT 2023 AND VI 104 AND IP 3
Results: 17
Genotype‐phenotype analysis of selective failure of tooth eruption—A systematic review.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 287, doi. 10.1111/cge.14400
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Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 334, doi. 10.1111/cge.14387
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A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 324, doi. 10.1111/cge.14386
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Development and validation of a novel nomogram to predict the impact of the polymorphism of the ICAM‐1 gene on the prognosis of ischemic cardiomyopathy.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 313, doi. 10.1111/cge.14385
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Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 298, doi. 10.1111/cge.14382
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GNAS gene mutations affecting XLαs and bone health: A long neglected relationship.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 279, doi. 10.1111/cge.14378
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Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 377, doi. 10.1111/cge.14360
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- Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 365, doi. 10.1111/cge.14358
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A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 356, doi. 10.1111/cge.14357
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Pigmentation abnormalities in Coffin‐Siris syndrome.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 393, doi. 10.1111/cge.14356
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Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 390, doi. 10.1111/cge.14355
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Octapeptide repeat alteration mutations of the prion protein gene in clinically diagnosed Alzheimer's disease and frontotemporal dementia.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 350, doi. 10.1111/cge.14354
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- Article
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 387, doi. 10.1111/cge.14350
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- Article
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 344, doi. 10.1111/cge.14348
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Discovering the ANK2‐related autism phenotype.
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- Clinical Genetics, 2023, v. 104, n. 3, p. 384, doi. 10.1111/cge.14347
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 277, doi. 10.1111/cge.14159
- Publication type:
- Article