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Issue Information - Editorial Board.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 189, doi. 10.1111/cge.12667
- Publication type:
- Article
National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 191, doi. 10.1111/cge.12786
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- Publication type:
- Article
Prenatal diagnosis of congenital myopathies and muscular dystrophies.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 199, doi. 10.1111/cge.12801
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- Publication type:
- Article
A role for TENM1 mutations in congenital general anosmia.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 211, doi. 10.1111/cge.12782
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- Publication type:
- Article
Clinical, biochemical and molecular characterization of prosaposin deficiency.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 220, doi. 10.1111/cge.12753
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- Publication type:
- Article
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 230, doi. 10.1111/cge.12754
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- Publication type:
- Article
High frequency of OTOF mutations in Chinese infants with congenital auditory neuropathy spectrum disorder.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 238, doi. 10.1111/cge.12744
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- Publication type:
- Article
Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 247, doi. 10.1111/cge.12692
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- Publication type:
- Article
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 252, doi. 10.1111/cge.12751
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- Publication type:
- Article
A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 258, doi. 10.1111/cge.12773
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- Publication type:
- Article
Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 263, doi. 10.1111/cge.12700
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- Publication type:
- Article
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 270, doi. 10.1111/cge.12721
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- Publication type:
- Article
Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 276, doi. 10.1111/cge.12767
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- Publication type:
- Article
Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 282, doi. 10.1111/cge.12796
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- Publication type:
- Article
Is there a link between Holt-Oram Syndrome and 'Mardini-Nyhan' association? - need for further research.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 284, doi. 10.1111/cge.12777
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- Publication type:
- Article
Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 3, p. 288, doi. 10.1111/cge.12799
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- Publication type:
- Article