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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Journal of medical genetics, 2015-08, Vol.52 (8), p.514-522

2015

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Journal of medical genetics, 2010-01, Vol.47 (1), p.8-21

2010

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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Journal of medical genetics, 2006-04, Vol.43 (4), p.334-339

2006

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Microbiological contamination of shell eggs produced in conventional and free-range housing systems

Food control, 2015-01, Vol.47, p.161-165

2015

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The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

Journal of medical genetics, 2001-01, Vol.38 (1), p.52-58

2001

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DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein

The Journal of biological chemistry, 1992-02, Vol.267 (5), p.3358-3367

1992

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Similarity of Human Mitochondrial Transcription Factor 1 to High Mobility Group Proteins

Science (American Association for the Advancement of Science), 1991-05, Vol.252 (5008), p.965-969

1991

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Can the impacts of cold-water pollution on fish be mitigated by thermal plasticity?

Conservation physiology, 2020, Vol.8 (1), p.coaa005-coaa005

2020

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Molecular physiognomies and applications of adipose-derived stem cells

Stem cell reviews and reports, 2015-04, Vol.11 (2), p.298-308

2015

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A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HMG-box protein both in vivo and in vitro

Molecular and Cellular Biology, 1993-03, Vol.13 (3), p.1951-1961

1993

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Effect of strain on duck breast meat quality

Journal of applied poultry research, 2015-09, Vol.24 (3), p.401-407

2015

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Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements

Ultrasound in obstetrics & gynecology, 2003-06, Vol.21 (6), p.609-615

2003

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Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

Nature (London), 1991-05, Vol.351 (6323), p.236-239

1991

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Paediatric radiopharmaceutical administration: harmonization of the 2007 EANM paediatric dosage card (version 1.5.2008) and the 2010 North American consensus guidelines

European journal of nuclear medicine and molecular imaging, 2014-05, Vol.41 (5), p.1036-1041

2014

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Genetics of Hirschsprung disease

Current opinion in pediatrics, 2000-12, Vol.12 (6), p.610-617

2000

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Ground-glass opacity of the lung in a patient with melanoma: “The radiological seed of doubt”

Revista espanola de medicina nuclear e imagen molecular, 2015-11, Vol.34 (6), p.390-392

2015

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Rapid growth of myxoid leiomyosarcoma of the vulva during pregnancy: a case report

International journal of gynecological cancer, 2004-01, Vol.14 (1), p.172-175

2004

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Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1

Genes & development, 1989-12, Vol.3 (12B), p.2202-2217

1989

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Indications and outcome for intensive care unit admission during puerperium

Archives of gynecology and obstetrics, 2001-11, Vol.265 (4), p.195-198

2001

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Seismic behavior and retrofitting of joints in traditional timber roof structures

Soil dynamics and earthquake engineering (1984), 2002, Vol.22 (9), p.1183-1191

2002

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Fusion of sensors with dissimilar measurement/tracking accuracies

IEEE transactions on aerospace and electronic systems, 1993-01, Vol.29 (1), p.245-250

1993

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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.657-663

2007

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Razor blade shear method for evaluating duck breast meat and tendon texture

Journal of applied poultry research, 2014-12, Vol.23 (4), p.742-747

2014

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Effect of Sex, Bird Size and Marination on Duck Breast Meat Quality

International journal of poultry science, 2015-03, Vol.14 (4), p.191-195

2015

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Rapid growth of myxoid leiomyosarcoma of the vulva during pregnancy: a case report

International journal of gynecological cancer, 2004-01, Vol.14 (1), p.172-175

2004

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Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome

Microbiological contamination of shell eggs produced in conventional and free-range housing systems

The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome

DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein

Similarity of Human Mitochondrial Transcription Factor 1 to High Mobility Group Proteins

Can the impacts of cold-water pollution on fish be mitigated by thermal plasticity?

Molecular physiognomies and applications of adipose-derived stem cells

A human mitochondrial transcriptional activator can functionally replace a yeast mitochondrial HMG-box protein both in vivo and in vitro

Effect of strain on duck breast meat quality

Multiple fetal anomalies associated with subtle subtelomeric chromosomal rearrangements

Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies

Paediatric radiopharmaceutical administration: harmonization of the 2007 EANM paediatric dosage card (version 1.5.2008) and the 2010 North American consensus guidelines

Genetics of Hirschsprung disease

Ground-glass opacity of the lung in a patient with melanoma: “The radiological seed of doubt”

Rapid growth of myxoid leiomyosarcoma of the vulva during pregnancy: a case report

Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1

Indications and outcome for intensive care unit admission during puerperium

Seismic behavior and retrofitting of joints in traditional timber roof structures

Fusion of sensors with dissimilar measurement/tracking accuracies

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

Razor blade shear method for evaluating duck breast meat and tendon texture

Effect of Sex, Bird Size and Marination on Duck Breast Meat Quality

Rapid growth of myxoid leiomyosarcoma of the vulva during pregnancy: a case report

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