Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 21
Results: 22
Subscription Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt476
- Publication type:
- Article
Editorial Board.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt474
- Publication type:
- Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283
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- Publication type:
- Article
A Prader–Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4318, doi. 10.1093/hmg/ddt281
- By:
- Publication type:
- Article
Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4241, doi. 10.1093/hmg/ddt275
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- Publication type:
- Article
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4293, doi. 10.1093/hmg/ddt279
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- Publication type:
- Article
Muscle-specific function of the centronuclear myopathy and Charcot–Marie–Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4417, doi. 10.1093/hmg/ddt292
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- Publication type:
- Article
Birt–Hogg–Dubé syndrome is a novel ciliopathy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4383, doi. 10.1093/hmg/ddt288
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- Publication type:
- Article
An association study of TOLL and CARD with leprosy susceptibility in Chinese population.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4430, doi. 10.1093/hmg/ddt286
- By:
- Publication type:
- Article
Cover Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt472
- Publication type:
- Article
Contents Page.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt470
- Publication type:
- Article
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4329, doi. 10.1093/hmg/ddt282
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- Publication type:
- Article
Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4349, doi. 10.1093/hmg/ddt284
- By:
- Publication type:
- Article
Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4368, doi. 10.1093/hmg/ddt287
- By:
- Publication type:
- Article
MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4357, doi. 10.1093/hmg/ddt285
- By:
- Publication type:
- Article
LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4267, doi. 10.1093/hmg/ddt277
- By:
- Publication type:
- Article
MAP2K3 is associated with body mass index in American Indians and Caucasians and may mediate hypothalamic inflammation.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4438, doi. 10.1093/hmg/ddt291
- By:
- Publication type:
- Article
Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4306, doi. 10.1093/hmg/ddt280
- By:
- Publication type:
- Article
Polar substitutions in helix 3 of the prion protein produce transmembrane isoforms that disturb vesicle trafficking.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4253, doi. 10.1093/hmg/ddt276
- By:
- Publication type:
- Article
Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4398, doi. 10.1093/hmg/ddt289
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- Publication type:
- Article
Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4282, doi. 10.1093/hmg/ddt278
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- Publication type:
- Article
Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4405, doi. 10.1093/hmg/ddt290
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- Publication type:
- Article