Works matching IS 00099163 AND DT 2023 AND VI 103 AND IP 1
Results: 17
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next‐generation sequencing.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 67, doi. 10.1111/cge.14244
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Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 119, doi. 10.1111/cge.14231
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Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 45, doi. 10.1111/cge.14239
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A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 127, doi. 10.1111/cge.14237
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Copy‐number analysis by base‐level normalization: An intuitive visualization tool for evaluating copy number variations.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 35, doi. 10.1111/cge.14236
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Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 109, doi. 10.1111/cge.14227
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Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 53, doi. 10.1111/cge.14240
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Cerebrotendinous xanthomatosis: A candidate for ACMG list of secondary findings?
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- Clinical Genetics, 2023, v. 103, n. 1, p. 125, doi. 10.1111/cge.14230
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Bi‐allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 114, doi. 10.1111/cge.14229
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A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 16, doi. 10.1111/cge.14228
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Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 79, doi. 10.1111/cge.14234
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Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 103, doi. 10.1111/cge.14226
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Genetic overview of postaxial polydactyly: Updated classification.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 3, doi. 10.1111/cge.14224
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Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 97, doi. 10.1111/cge.14222
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Splice‐site variant in the RPS7 5′‐UTR leads to a decrease in the mRNA level and development of Diamond‐Blackfan anemia.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 93, doi. 10.1111/cge.14221
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- Article
Novel stop‐gain RNF170 variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia.
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- Clinical Genetics, 2023, v. 103, n. 1, p. 87, doi. 10.1111/cge.14219
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- Article
Issue Information.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 1, doi. 10.1111/cge.14151
- Publication type:
- Article