Issue Information - Editorial Board.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 103, doi. 10.1111/cge.12666
- Publication type:
- Article
Works matching IS 00099163 AND DT 2016 AND VI 90 AND IP 2
Results: 14
1
2
WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 182, doi. 10.1111/cge.12730
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- Publication type:
- Article
3
Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 186, doi. 10.1111/cge.12733
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- Publication type:
- Article
4
Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 118, doi. 10.1111/cge.12758
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- Publication type:
- Article
5
Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 141, doi. 10.1111/cge.12706
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- Publication type:
- Article
6
Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 149, doi. 10.1111/cge.12723
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- Publication type:
- Article
7
Cerebellar ataxia and severe muscle CoQ<sub>10</sub> deficiency in a patient with a novel mutation in ADCK3.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 156, doi. 10.1111/cge.12742
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- Publication type:
- Article
8
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 161, doi. 10.1111/cge.12745
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- Publication type:
- Article
9
Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 166, doi. 10.1111/cge.12695
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- Publication type:
- Article
10
Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 171, doi. 10.1111/cge.12760
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- Publication type:
- Article
11
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 105, doi. 10.1111/cge.12710
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- Publication type:
- Article
12
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 127, doi. 10.1111/cge.12712
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- Publication type:
- Article
13
Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 177, doi. 10.1111/cge.12714
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- Publication type:
- Article
14
Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.
- Published in:
- Clinical Genetics, 2016, v. 90, n. 2, p. 134, doi. 10.1111/cge.12719
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- Publication type:
- Article