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Clinical Genetics paving the way to the future.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 217, doi. 10.1111/cge.13899
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A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 325, doi. 10.1111/cge.13880
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Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 269, doi. 10.1111/cge.13879
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- Article
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878
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- Article
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 313, doi. 10.1111/cge.13877
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Identification of the third FGF9 variant in a girl with multiple synostosis–comparison of the genotype:phenotype of FGF9 variants in humans and mice.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 309, doi. 10.1111/cge.13876
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- Article
A review on age‐related cancer risks in PTEN hamartoma tumor syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 219, doi. 10.1111/cge.13875
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 259, doi. 10.1111/cge.13874
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An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 303, doi. 10.1111/cge.13873
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- Article
WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 298, doi. 10.1111/cge.13872
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A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novoPKD1 mutation.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 250, doi. 10.1111/cge.13871
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- Article
Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 281, doi. 10.1111/cge.13856
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- Article
Vestibular phenotype‐genotype correlation in a cohort of 90 patients with Usher syndrome.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 226, doi. 10.1111/cge.13868
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- Article
Parkes‐Weber syndrome related to RASA1 mosaic mutation.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 330, doi. 10.1111/cge.13860
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- Article
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 292, doi. 10.1111/cge.13859
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Expanding the genetic and phenotypic spectrum of the subcortical maternal complex genes in recurrent preimplantation embryonic arrest.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 286, doi. 10.1111/cge.13858
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- Article
Clinical application of a phenotype‐based NGS panel for differential diagnosis of inherited kidney disease and beyond.
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- Clinical Genetics, 2021, v. 99, n. 2, p. 236, doi. 10.1111/cge.13869
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 215, doi. 10.1111/cge.13778
- Publication type:
- Article