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Title
Genetic basis of human left–right asymmetry disorders
Authors
Keywords
-
Journal
EXPERT REVIEWS IN MOLECULAR MEDICINE
Volume 16, Issue -, Pages -
Publisher
Cambridge University Press (CUP)
Online
2015-01-27
DOI
10.1017/erm.2014.22
References
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- (2013) Christina Austin-Tse et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2013) Daniel J. Moore et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2013) Maimoona A. Zariwala et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus
- (2013) Duncan B. Sparrow et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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- (2013) Samir Zaidi et al. NATURE
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- (2013) Maureen Wirschell et al. NATURE GENETICS
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- (2012) Alexandros Onoufriadis et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2009) Philippe Duquesnoy et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2009) Niki Tomas Loges et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- Lethal Cystic Kidney Disease in Amish Neonates Associated With Homozygous Nonsense Mutation of NPHP3
- (2009) Michael A. Simpson et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- Disorders of left-right asymmetry: Heterotaxy and situs inversus
- (2009) Mardi J. Sutherland et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Mutations in zebrafish leucine-rich repeat-containing six-like affect cilia motility and result in pronephric cysts, but have variable effects on left-right patterning
- (2009) F. C. Serluca et al. DEVELOPMENT
- Xenopus, an ideal model system to study vertebrate left-right asymmetry
- (2009) Martin Blum et al. DEVELOPMENTAL DYNAMICS
- Familial transposition of the great arteries caused by multiple mutations in laterality genes
- (2009) A. De Luca et al. HEART
- Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia
- (2009) M Failly et al. JOURNAL OF MEDICAL GENETICS
- Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping
- (2009) Torunn Fiskerstrand et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Massively parallel sequencing identifies the gene Megf8 with ENU-induced mutation causing heterotaxy
- (2009) Z. Zhang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia
- (2008) Carsten Bergmann et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
- (2008) Niki Tomas Loges et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The development and evolution of left-right asymmetry in invertebrates: Lessons fromDrosophilaand snails
- (2008) Takashi Okumura et al. DEVELOPMENTAL DYNAMICS
- Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis
- (2008) D. B. Sparrow et al. HUMAN MOLECULAR GENETICS
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
- (2008) Heymut Omran et al. NATURE
- DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia
- (2008) Mike Failly et al. RESPIRATION
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations
- (2007) Georg C. Schwabe et al. HUMAN MUTATION
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