Found: 14
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Segmental maternal UPD(7q) in Silver–Russell syndrome.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Refining the phenotype of α-1a Tubulin ( TUBA1A) mutation in patients with classical lissencephaly.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 425, doi. 10.1111/j.1399-0004.2008.01093.x
- By:
- Publication type:
- Article
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 445, doi. 10.1111/j.1399-0004.2008.01062.x
- By:
- Publication type:
- Article
Adaptation to living with a genetic condition or risk: a mini-review.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 401, doi. 10.1111/j.1399-0004.2008.01088.x
- By:
- Publication type:
- Article
A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 476, doi. 10.1111/j.1399-0004.2008.01025.x
- By:
- Publication type:
- Article
Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter).
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 455, doi. 10.1111/j.1399-0004.2008.01064.x
- By:
- Publication type:
- Article
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 463, doi. 10.1111/j.1399-0004.2008.01071.x
- By:
- Publication type:
- Article
Ghosal syndrome – genetics unveiled.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 408, doi. 10.1111/j.1399-0004.2008.01080_1.x
- By:
- Publication type:
- Article
The genetic basis of uric acid variance.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 410, doi. 10.1111/j.1399-0004.2008.01080_2.x
- By:
- Publication type:
- Article
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 434, doi. 10.1111/j.1399-0004.2008.01087.x
- By:
- Publication type:
- Article
Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 414, doi. 10.1111/j.1399-0004.2008.01089.x
- By:
- Publication type:
- Article
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 469, doi. 10.1111/j.1399-0004.2008.01094.x
- By:
- Publication type:
- Article
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
- Published in:
- Clinical Genetics, 2008, v. 74, n. 5, p. 481, doi. 10.1111/j.1399-0004.2008.00996.x
- By:
- Publication type:
- Article