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The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

Molecular psychiatry, 2015-02, Vol.20 (1), p.140-147

2015

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The Wnt receptor FZD1 mediates chemoresistance in neuroblastoma through activation of the Wnt β-catenin pathway

Oncogene, 2009-06, Vol.28 (23), p.2245-2256

2009

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FoldIndex©: a simple tool to predict whether a given protein sequence is intrinsically unfolded

Bioinformatics, 2005-08, Vol.21 (16), p.3435-3438

2005

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Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle

The Journal of physiology, 2002-08, Vol.543 (1), p.297-306

2002

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Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

Journal of medical genetics, 2009-12, Vol.46 (12), p.818-824

2009

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c-Jun N-terminal kinase JNK participates in cytokine- and isolation stress-induced rat pancreatic islet apoptosis

Diabetologia, 2007-08, Vol.50 (8), p.1660-1669

2007

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JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis

Diabetologia, 2009-09, Vol.52 (9), p.1871-1880

2009

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Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

Neurology, 2001-04, Vol.56 (7), p.869

2001

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Genetic characterization of CHO production host DG44 and derivative recombinant cell lines

Biochemical and biophysical research communications, 2006-02, Vol.340 (4), p.1069-1077

2006

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Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Human molecular genetics, 1999-05, Vol.8 (5), p.855-861

1999

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Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Neurology, 2001-07, Vol.57 (2), p.271

2001

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Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Nature genetics, 1999-06, Vol.22 (2), p.178-181

1999

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Series of Exon-Skipping Events in the Elastic Spring Region of Titin as the Structural Basis for Myofibrillar Elastic Diversity

Circulation research, 2000-06, Vol.86 (11), p.1114-1121

2000

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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Nature genetics, 1998-09, Vol.20 (1), p.37-42

1998

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Confirmation of the origin of NISCH syndrome

Human mutation, 2006-05, Vol.27 (5), p.408-410

2006

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Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies

Science (American Association for the Advancement of Science), 1997-09, Vol.277 (5331), p.1518-1523

1997

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Stable Expression of Calpain 3 from a Muscle Transgene in vivo: Immature Muscle in Transgenic Mice Suggests a Role for Calpain 3 in Muscle Maturation

Proceedings of the National Academy of Sciences - PNAS, 2002-06, Vol.99 (13), p.8874-8879

2002

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New quality measure for SNP array based CNV detection

Bioinformatics (Oxford, England), 2016-11, Vol.32 (21), p.3298-3305

2016

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Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

Annals of neurology, 1999-02, Vol.45 (2), p.182-188

1999

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Circadian regulation of islet genes involved in insulin production and secretion

Molecular and cellular endocrinology, 2004-10, Vol.226 (1), p.59-66

2004

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Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)

Brain (London, England : 1878), 1998-09, Vol.121 (9), p.1735-1747

1998

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Toward a Unified Approach to Genetic Mapping of Eukaryotes Based on Sequence Tagged Microsatellite Sites

Bio/technology (New York, N.Y. 1983), 1990-10, Vol.8 (10), p.930-932

1990

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Individual differences in impulsive action and dopamine transporter function in rat orbitofrontal cortex

Neuroscience, 2016-01, Vol.313, p.122-129

2016

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Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus

Nature (London), 1992-03, Vol.356 (6365), p.162-164

1992

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β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Nature genetics, 1995-11, Vol.11 (3), p.257-265

1995

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The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

The Wnt receptor FZD1 mediates chemoresistance in neuroblastoma through activation of the Wnt β-catenin pathway

FoldIndex©: a simple tool to predict whether a given protein sequence is intrinsically unfolded

Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation

c-Jun N-terminal kinase JNK participates in cytokine- and isolation stress-induced rat pancreatic islet apoptosis

JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

Genetic characterization of CHO production host DG44 and derivative recombinant cell lines

Dysferlin is a Plasma Membrane Protein and is Expressed Early in Human Development

Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome

Series of Exon-Skipping Events in the Elastic Spring Region of Titin as the Structural Basis for Myofibrillar Elastic Diversity

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Confirmation of the origin of NISCH syndrome

Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies

Stable Expression of Calpain 3 from a Muscle Transgene in vivo: Immature Muscle in Transgenic Mice Suggests a Role for Calpain 3 in Muscle Maturation

New quality measure for SNP array based CNV detection

Autosomal dominant lateral temporal epilepsy: Clinical and genetic study of a large basque pedigree linked to chromosome 10q

Circadian regulation of islet genes involved in insulin production and secretion

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain)

Toward a Unified Approach to Genetic Mapping of Eukaryotes Based on Sequence Tagged Microsatellite Sites

Individual differences in impulsive action and dopamine transporter function in rat orbitofrontal cortex

Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus

β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

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