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Results 1 - 20 of 174  for Central Connecticut State University

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1
Burosumab Therapy in Children with X-Linked Hypophosphatemia
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Burosumab Therapy in Children with X-Linked Hypophosphatemia

Carpenter, Thomas O ; Whyte, Michael P ; Imel, Erik A ; Boot, Annemieke M ; Högler, Wolfgang ; Linglart, Agnès ; Padidela, Raja ; van’t Hoff, William ; Mao, Meng ; Chen, Chao-Yin ; Skrinar, Alison ; Kakkis, Emil ; San Martin, Javier ; Portale, Anthony A

The New England journal of medicine, 2018-05-24, Vol.378 (21), p.1987-1998 [Peer Reviewed Journal]

United States: Massachusetts Medical Society

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2
Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms
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Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Zeitz, Christina ; Robson, Anthony G ; Audo, Isabelle

Progress in retinal and eye research, 2015-03, Vol.45, p.58-110 [Peer Reviewed Journal]

England: Elsevier Ltd

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3
KATP Channels and Cardiovascular Disease: Suddenly a Syndrome
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KATP Channels and Cardiovascular Disease: Suddenly a Syndrome

Nichols, Colin G ; Singh, Gautam K ; Grange, Dorothy K

Circulation research, 2013-03-29, Vol.112 (7), p.1059-1072 [Peer Reviewed Journal]

United States: American Heart Association, Inc

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4
Role of cardiolipin alterations in mitochondrial dysfunction and disease
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Role of cardiolipin alterations in mitochondrial dysfunction and disease

Adam J. Chicco ; Genevieve C. Sparagna

American Journal of Physiology - Cell Physiology, 2007-01-01, Vol.292 (1), p.33-44 [Peer Reviewed Journal]

United States: American Physiological Society

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5
Two-Dimensional Analysis of Horizontal and Vertical Pursuit in Infantile Nystagmus Reveals Quantitative Deficits in Accuracy and Precision
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Two-Dimensional Analysis of Horizontal and Vertical Pursuit in Infantile Nystagmus Reveals Quantitative Deficits in Accuracy and Precision

Mcilreavy, Lee ; Freeman, Tom C A ; Erichsen, Jonathan T

Investigative ophthalmology & visual science, 2020-06-03, Vol.61 (6), p.15-15 [Peer Reviewed Journal]

United States

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6
Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus
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Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus

Economides, John R ; Suh, Young-Woo ; Simmons, Joshua B ; Adams, Daniel L ; Horton, Jonathan C

Investigative ophthalmology & visual science, 2020-06-03, Vol.61 (6), p.14-14 [Peer Reviewed Journal]

United States

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7
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease
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CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease

Anita A. C. Reed ; Nellie Y. Loh ; Sara Terryn ; Jonathan D. Lippiat ; Chris Partridge ; Juris Galvanovskis ; Siân E. Williams ; Francois Jouret ; Fiona T. F. Wu ; Pierre J. Courtoy ; M. Andrew Nesbit ; Patrik Rorsman ; Olivier Devuyst ; Frances M. Ashcroft ; Rajesh V. Thakker

American Journal of Physiology - Renal Physiology, 2010-02-01, Vol.298 (2), p.365-380 [Peer Reviewed Journal]

United States: American Physiological Society

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8
FGF23 and its role in X-linked hypophosphatemia-related morbidity
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FGF23 and its role in X-linked hypophosphatemia-related morbidity

Beck-Nielsen, Signe Sparre ; Mughal, Zulf ; Haffner, Dieter ; Nilsson, Ola ; Levtchenko, Elena ; Ariceta, Gema ; de Lucas Collantes, Carmen ; Schnabel, Dirk ; Jandhyala, Ravi ; Mäkitie, Outi

Orphanet journal of rare diseases, 2019-02-26, Vol.14 (1), p.58-58 [Peer Reviewed Journal]

England: BioMed Central Ltd

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9
Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms
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Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms

Che, Hélène ; Roux, Christian ; Etcheto, Adrien ; Rothenbuhler, Anya ; Kamenicky, Peter ; Linglart, Agnès ; Briot, Karine

European journal of endocrinology, 2016-03, Vol.174 (3), p.325-333 [Peer Reviewed Journal]

England: Bioscientifica Ltd

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10
Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves
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Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves

Akula, James D ; Ambrosio, Lucia ; Howard, Fiona I ; Hansen, Ronald M ; Fulton, Anne B

Experimental eye research, 2019-12, Vol.189, p.107827-107827 [Peer Reviewed Journal]

England: Elsevier Ltd

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11
Browning capabilities of human primary adipose-derived stromal cells compared to SGBS cells
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Browning capabilities of human primary adipose-derived stromal cells compared to SGBS cells

Halbgebauer, D ; Dahlhaus, M ; Wabitsch, M ; Fischer-Posovszky, P ; Tews, D

Scientific reports, 2020-06-15, Vol.10 (1), p.9632-9632 [Peer Reviewed Journal]

England: Nature Publishing Group

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12
The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients
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The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

Joustra, S. D ; Schoenmakers, N ; Persani, L ; Campi, I ; Bonomi, M ; Radetti, G ; Beck-Peccoz, P ; Zhu, H ; Davis, T. M. E ; Sun, Y ; Corssmit, E. P ; Appelman-Dijkstra, N. M ; Heinen, C. A ; Pereira, A. M ; Varewijck, A. J ; Janssen, J. A. M. J. L ; Endert, E ; Hennekam, R. C ; Lombardi, M. P ; Mannens, M. M. A. M ; Bak, B ; Bernard, D. J ; Breuning, M. H ; Chatterjee, K ; Dattani, M. T ; Oostdijk, W ; Biermasz, N. R ; Wit, J. M ; van Trotsenburg, A. S. P

The journal of clinical endocrinology and metabolism, 2013-12, Vol.98 (12), p.4942-4952 [Peer Reviewed Journal]

Bethesda, MD: Endocrine Society

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13
Calcium-dependent release of adipocyte fatty acid binding protein from human adipocytes
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Calcium-dependent release of adipocyte fatty acid binding protein from human adipocytes

SCHLOTTMANN, I ; EHRHART-BORNSTEIN, M ; WABITSCH, M ; BORNSTEIN, S. R ; LAMOUNIER-ZEPTER, V

International journal of obesity, 2014, Vol.38 (9), p.1221-1227 [Peer Reviewed Journal]

Basingstoke: Nature Publishing Group

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14
In vivo electroretinographic differentiation of rod, short-wavelength and long/medium-wavelength cone responses in dogs using silent substitution stimuli
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In vivo electroretinographic differentiation of rod, short-wavelength and long/medium-wavelength cone responses in dogs using silent substitution stimuli

Mowat, Freya M ; Wise, Elisabeth ; Oh, Annie ; Foster, Melanie L ; Kremers, Jan

Experimental eye research, 2019-08, Vol.185, p.107673-107673 [Peer Reviewed Journal]

England: Elsevier Ltd

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15
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration
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Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration

Li, Linjing ; Khan, Naheed ; Hurd, Toby ; Ghosh, Amiya Kumar ; Cheng, Christiana ; Molday, Robert ; Heckenlively, John R ; Swaroop, Anand ; Khanna, Hemant

Investigative ophthalmology & visual science, 2013-07-02, Vol.54 (7), p.4503-4511 [Peer Reviewed Journal]

United States: The Association for Research in Vision and Ophthalmology

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16
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa
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Article
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High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa

Bellingrath, Julia-Sophia ; Ochakovski, G Alex ; Seitz, Immanuel P ; Kohl, Susanne ; Zrenner, Eberhart ; Hanig, Nicola ; Prokisch, Holger ; Weber, Bernhard H ; Downes, Susan M ; Ramsden, Simon ; MacLaren, Robert E ; Fischer, M Dominik

Investigative ophthalmology & visual science, 2017-09-01, Vol.58 (11), p.4457-4466 [Peer Reviewed Journal]

United States

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17
A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease
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A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease

Vinberg, Frans ; Wang, Tian ; Molday, Robert S ; Chen, Jeannie ; Kefalov, Vladimir J

Human molecular genetics, 2015-10-15, Vol.24 (20), p.5915-5929 [Peer Reviewed Journal]

England: Oxford University Press

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18
Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature
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Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature

Abejero, Joshua Emmanuel E ; Jamora, Roland Dominic G ; Vesagas, Theodor S ; Teleg, Rosalia A ; Rosales, Raymond L ; Anlacan, Joseph P ; Velasquez, Monserrat S ; Aguilar, Jose A

Parkinsonism & related disorders, 2019-03, Vol.60, p.81-86 [Peer Reviewed Journal]

England: Elsevier Ltd

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19
Use of induced pluripotent stem cells to recapitulate pulmonary alveolar proteinosis pathogenesis
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Use of induced pluripotent stem cells to recapitulate pulmonary alveolar proteinosis pathogenesis

Suzuki, Takuji ; Mayhew, Christopher ; Sallese, Anthony ; Chalk, Claudia ; Carey, Brenna C ; Malik, Punam ; Wood, Robert E ; Trapnell, Bruce C

American journal of respiratory and critical care medicine, 2014-01-15, Vol.189 (2), p.183-193 [Peer Reviewed Journal]

United States: American Thoracic Society

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20
Mitral Valve Prolapse
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Mitral Valve Prolapse

Guy, T. Sloane ; Hill, Arthur C

Annual review of medicine, 2012-02-18, Vol.63 (1), p.277-292 [Peer Reviewed Journal]

United States: Annual Reviews

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