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Recommendations for the echocardiographic assessment of native valvular regurgitation: an executive summary from the European Association of Cardiovascular Imaging

European heart journal cardiovascular imaging, 2013-07, Vol.14 (7), p.611-644

2013

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The ciliopathies: an emerging class of human genetic disorders

Annual review of genomics and human genetics, 2006-01, Vol.7 (1), p.125-148

2006

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Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

PLoS genetics, 2022-06, Vol.18 (6), p.e1009896-e1009896

2022

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Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent

PloS one, 2016-08, Vol.11 (8), p.e0162033-e0162033

2016

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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

Nature genetics, 2007-11, Vol.39 (11), p.1350-1360

2007

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Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

American journal of medical genetics. Part C, Seminars in medical genetics, 2009-11, Vol.151C (4), p.263-280

2009

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Beyond Mendel: an evolving view of human genetic disease transmission

Nature reviews. Genetics, 2002-10, Vol.3 (10), p.779-789

2002

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Photoreceptor progenitor dynamics in the zebrafish embryo retina and its modulation by primary cilia and N-cadherin

The International journal of developmental biology, 2021, Vol.65 (4-5-6), p.439-455

2021

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Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1

Scientific reports, 2024-07, Vol.14 (1), p.15085-9, Article 15085

2024

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The appropriate and justified use of medical radiation in cardiovascular imaging: a position document of the ESC Associations of Cardiovascular Imaging, Percutaneous Cardiovascular Interventions and Electrophysiology

European heart journal, 2014-03, Vol.35 (10), p.665-672

2014

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Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Science (American Association for the Advancement of Science), 2001-09, Vol.293 (5538), p.2256-2259

2001

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Definitions for a common standard for 2D speckle tracking echocardiography: consensus document of the EACVI/ASE/Industry Task Force to standardize deformation imaging

European heart journal cardiovascular imaging, 2015-01, Vol.16 (1), p.1-11

2015

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Keeping the Balance Between Proliferation and Differentiation:The Primary Cilium

Current genomics, 2011-06, Vol.12 (4), p.285-297

2011

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Nature, 2006-01, Vol.439 (7074), p.326-330

2006

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Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Nature genetics, 2004-09, Vol.36 (9), p.994-998

2004

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Nature, 2003-10, Vol.425 (6958), p.628-633

2003

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Insights into in vivo adipocyte differentiation through cell-specific labeling in zebrafish

Biology open, 2021-09, Vol.10 (9)

2021

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The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Nature genetics, 2004-05, Vol.36 (5), p.462-470

2004

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Beyond the limits of 1D coherent synchrotron radiation

New journal of physics, 2018-07, Vol.20 (7), p.73035

2018

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Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

Proceedings of the National Academy of Sciences - PNAS, 2010-06, Vol.107 (23), p.10602-10607

2010

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Triage strategy for urgent management of cardiac tamponade: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

European heart journal, 2014-09, Vol.35 (34), p.2279-2284

2014

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

Nature genetics, 2004-09, Vol.36 (9), p.989-993

2004

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Laser heater commissioning at an externally seeded free-electron laser

Physical review special topics. PRST-AB. Accelerators and beams, 2014-12, Vol.17 (12), p.120705, Article 120705

2014

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Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B

Scientific reports, 2018-02, Vol.8 (1), p.3019-16, Article 3019

2018

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Recommendations for the echocardiographic assessment of native valvular regurgitation: an executive summary from the European Association of Cardiovascular Imaging

The ciliopathies: an emerging class of human genetic disorders

Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes

Ciliary Entry of the Hedgehog Transcriptional Activator Gli2 Is Mediated by the Nuclear Import Machinery but Differs from Nuclear Transport in Being Imp-α/β1-Independent

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies

Beyond Mendel: an evolving view of human genetic disease transmission

Photoreceptor progenitor dynamics in the zebrafish embryo retina and its modulation by primary cilia and N-cadherin

Impact of Bariatric Surgery on metabolic health in a Uruguayan cohort and the emerging predictive role of FSTL1

The appropriate and justified use of medical radiation in cardiovascular imaging: a position document of the ESC Associations of Cardiovascular Imaging, Percutaneous Cardiovascular Interventions and Electrophysiology

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Definitions for a common standard for 2D speckle tracking echocardiography: consensus document of the EACVI/ASE/Industry Task Force to standardize deformation imaging

Keeping the Balance Between Proliferation and Differentiation:The Primary Cilium

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Insights into in vivo adipocyte differentiation through cell-specific labeling in zebrafish

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

Beyond the limits of 1D coherent synchrotron radiation

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

Triage strategy for urgent management of cardiac tamponade: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Laser heater commissioning at an externally seeded free-electron laser

Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B

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