Works matching IS 00099163 AND DT 2022 AND VI 102 AND IP 3
Results: 14
Czech family confirms the new 1p36.13‐1p36.12 microdeletion syndrome.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 244, doi. 10.1111/cge.14175
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Functional characterization of a JAG1 5'UTR variant in a patient with clinically observed Alagille syndrome.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 248, doi. 10.1111/cge.14179
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The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 246, doi. 10.1111/cge.14178
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Clinical and molecular genetic findings of Crisponi/cold‐induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 201, doi. 10.1111/cge.14177
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Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 191, doi. 10.1111/cge.14176
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Disorders of histone methylation: Molecular basis and clinical syndromes.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 169, doi. 10.1111/cge.14181
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Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 239, doi. 10.1111/cge.14174
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Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 182, doi. 10.1111/cge.14173
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Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 242, doi. 10.1111/cge.14172
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Estimation of familial recurrence risk of malignancy: Application of liability threshold model in genetic counseling.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 234, doi. 10.1111/cge.14171
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Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 228, doi. 10.1111/cge.14168
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Biallelic variants in PAX3 cause Klein syndrome.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 223, doi. 10.1111/cge.14167
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Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.
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- Clinical Genetics, 2022, v. 102, n. 3, p. 218, doi. 10.1111/cge.14166
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Issue Information.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 3, p. 167, doi. 10.1111/cge.13989
- Publication type:
- Article