Works matching IS 00099163 AND DT 2010 AND VI 78 AND IP 6
Results: 19
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria Espinós et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 554, doi. 10.1111/j.1399-0004.2010.01431.x
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ERCC6 founder mutation identified in Finnish patients with COFS syndrome Jaakkola et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 541, doi. 10.1111/j.1399-0004.2010.01424.x
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SHANK2 redemption: another synaptic protein for mental retardation and autism HotSpots.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 519, doi. 10.1111/j.1399-0004.2010.01530_2.x
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Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 598, doi. 10.1111/j.1399-0004.2010.01497.x
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A frameshift mutation in SANS results in atypical Usher syndrome.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 601, doi. 10.1111/j.1399-0004.2010.01500.x
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C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients Alazami et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 585, doi. 10.1111/j.1399-0004.2010.01441.x
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Two-hit wonder: a novel genetic model to explain variable expressivity in severe pediatric phenotypes.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 517, doi. 10.1111/j.1399-0004.2010.01530_1.x
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Improved growth and bone mineral density in type I trichorhinophalangeal syndrome in response to growth hormone therapy.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 591, doi. 10.1111/j.1399-0004.2010.01434.x
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Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? Zhang et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 570, doi. 10.1111/j.1399-0004.2010.01427.x
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Mutational spectrum in the cardiac transcription factor gene NKX2.5 ( CSX) associated with congenital heart disease Stallmeyer et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 533, doi. 10.1111/j.1399-0004.2010.01422.x
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Partial paternal uniparental disomy of chromosome 6 in monozygotic twins with transient neonatal diabetes mellitus and macroglossia Suzuki et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 580, doi. 10.1111/j.1399-0004.2010.01433.x
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High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy Lan et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 565, doi. 10.1111/j.1399-0004.2010.01421.x
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Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity? Castronovo et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 560, doi. 10.1111/j.1399-0004.2010.01408.x
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Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype analysis Grossmann et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 548, doi. 10.1111/j.1399-0004.2010.01419.x
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MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures Zuntini et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 507, doi. 10.1111/j.1399-0004.2010.01490.x
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Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA Song et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 524, doi. 10.1111/j.1399-0004.2010.01426.x
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No loss, no gain: how deletions in our genome contribute to early-onset obesity HotSpots.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 521, doi. 10.1111/j.1399-0004.2010.01530_3.x
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A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 594, doi. 10.1111/j.1399-0004.2010.01447.x
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NEMO mutation as a cause of familial occurrence of Behçet's disease in female patients Takada et al.
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- Clinical Genetics, 2010, v. 78, n. 6, p. 575, doi. 10.1111/j.1399-0004.2010.01432.x
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