Works matching IS 10597794 AND DT 2012 AND VI 33 AND IP 10
Results: 18
Identification of novel rare mutations of DACT1 in human neural tube defects.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1450, doi. 10.1002/humu.22121
- By:
- Publication type:
- Article
A modular approach to disease registry design: Successful adoption of an internet-based rare disease registry.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. E2356, doi. 10.1002/humu.22154
- By:
- Publication type:
- Article
Conserved and quickly evolving immunome genes have different evolutionary paths.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1456, doi. 10.1002/humu.22125
- By:
- Publication type:
- Article
Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA loci.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. E2367, doi. 10.1002/humu.22158
- By:
- Publication type:
- Article
Gaucher disease paradigm: From ERAD to comorbidity.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1398, doi. 10.1002/humu.22124
- By:
- Publication type:
- Article
Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1497, doi. 10.1002/humu.22135
- By:
- Publication type:
- Article
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1429, doi. 10.1002/humu.22175
- By:
- Publication type:
- Article
Solving bottlenecks in data sharing in the life sciences.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1494, doi. 10.1002/humu.22123
- By:
- Publication type:
- Article
Congenital myasthenic syndromes: Achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: A study of 680 patients.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1474, doi. 10.1002/humu.22130
- By:
- Publication type:
- Article
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1).
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1408, doi. 10.1002/humu.22127
- By:
- Publication type:
- Article
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1435, doi. 10.1002/humu.22122
- By:
- Publication type:
- Article
Classic EDS: Simply a type v collagen deficiency story?
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. v, doi. 10.1002/humu.22584
- By:
- Publication type:
- Article
The mechanism of BH<sub>4</sub>-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1464, doi. 10.1002/humu.22128
- By:
- Publication type:
- Article
The Genome Generation by Elizabeth Finkel.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1397, doi. 10.1002/humu.22140
- By:
- Publication type:
- Article
Molecular characterization of Joubert syndrome in Saudi Arabia.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1423, doi. 10.1002/humu.22134
- By:
- Publication type:
- Article
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1444, doi. 10.1002/humu.22133
- By:
- Publication type:
- Article
PRRT2 Mutations are the major cause of benign familial infantile seizures.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1439, doi. 10.1002/humu.22126
- By:
- Publication type:
- Article
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
- Published in:
- Human Mutation, 2012, v. 33, n. 10, p. 1485, doi. 10.1002/humu.22137
- By:
- Publication type:
- Article