Works matching IS 00099163 AND DT 2022 AND VI 101 AND IP 3
Results: 14
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 346, doi. 10.1111/cge.14105
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Pathogenic "germline" variants associated with myeloproliferative disorders in apparently normal individuals: Inherited or acquired genetic alterations?
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- Clinical Genetics, 2022, v. 101, n. 3, p. 371, doi. 10.1111/cge.14104
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Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103
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Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFB.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 377, doi. 10.1111/cge.14101
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Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large US health care system.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 324, doi. 10.1111/cge.14100
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Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 364, doi. 10.1111/cge.14099
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The risks of breast and ovarian cancer associated with the Ashkenazi Jewish founder allele BRCA2 6174delT.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 317, doi. 10.1111/cge.14098
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A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 359, doi. 10.1111/cge.14097
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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 296, doi. 10.1111/cge.14095
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Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 375, doi. 10.1111/cge.14094
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Clinical utility of liquid biopsy in breast cancer: A systematic review.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 285, doi. 10.1111/cge.14077
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- Article
Genetic counseling and testing for hereditary hemorrhagic telangiectasia.
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- Clinical Genetics, 2022, v. 101, n. 3, p. 275, doi. 10.1111/cge.14050
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 273, doi. 10.1111/cge.13983
- Publication type:
- Article