Human Molecular Genetics,volume 14,issue 1  (01-2013)

Period of time： 2013年1期

Publisher： Oxford University Press

Founded in： 1992

Total resources： 344

ISSN： 1460-2083

Subject： Q3 Genetics

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Human Molecular Genetics,volume 14,issue 1

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Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

By Duchatelet Sabine in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 1-5

Oxford University Press

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Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies

By Manh Thien Phong Vu in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 7-17

Oxford University Press

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The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B

By Reid Evan in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 19-38

Oxford University Press

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Orexin loss in Huntington's disease

By Petersén Åsa in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 39-47

Oxford University Press

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Deficiency of pantothenate kinase 2 ( Pank2 ) in mice leads to retinal degeneration and azoospermia

By Kuo Yien-Ming in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 49-57

Oxford University Press

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Comprehensive identification and characterization of diallelic insertion–deletion polymorphisms in 330 human candidate genes

By Bhangale Tushar R. in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 59-69

Oxford University Press

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Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress

By Moore Darren J. in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 71-84

Oxford University Press

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Variable and hierarchical size distribution of L1-retroelement-enriched CENP-A clusters within a functional human neocentromere

By Chueh Anderly C.,Wong Lee H.,Wong Nicholas,Choo K.H. Andy in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 85-93

Oxford University Press

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Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB

By Liu Jie,Nealon Julie G.,Weinstein Lee S. in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 95-102

Oxford University Press

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Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans

By Zheng Qing Yin in (2005)

Human Molecular Genetics,volume 14,issue 1 , Vol. 14, Iss. 1, 2005-01 , pp. 103-111

Oxford University Press

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