skip to main content
Resource type Show Results with: Show Results with: Index

Results 1 - 20 of 172  for Central Connecticut State University

Results 1 2 3 4 5 next page
Show only
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Burosumab Therapy in Children with X-Linked Hypophosphatemia
Material Type:
Article
Add to e-Shelf

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

Full text available online

2
Dyskeratosis congenita
Material Type:
Article
Add to e-Shelf

Dyskeratosis congenita

Dokal, Inderjeet

Hematology, 2011, Vol.2011 (1), p.480-486

United States

Full text available online

3
Role of cardiolipin alterations in mitochondrial dysfunction and disease
Material Type:
Article
Add to e-Shelf

Role of cardiolipin alterations in mitochondrial dysfunction and disease

Chicco, Adam J ; Sparagna, Genevieve C

American Journal of Physiology: Cell Physiology, 2007-01, Vol.292 (1), p.C33-C44 [Peer Reviewed Journal]

United States: American Physiological Society

Full text available online

4
CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease
Material Type:
Article
Add to e-Shelf

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

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

American journal of physiology. Renal physiology, 2010-02, Vol.298 (2), p.F365-F380 [Peer Reviewed Journal]

United States: American Physiological Society

Full text available online

5
Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years
Material Type:
Article
Add to e-Shelf

Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years

Cideciyan, Artur V ; Charng, Jason ; Roman, Alejandro J ; Sheplock, Rebecca ; Garafalo, Alexandra V ; Heon, Elise ; Jacobson, Samuel G

Investigative ophthalmology & visual science, 2018-09-12, Vol.59 (11), p.4558-4566 [Peer Reviewed Journal]

United States: Association for Research in Vision and Ophthalmology (ARVO)

Full text available online

6
A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus
Material Type:
Article
Add to e-Shelf

A selective EP4 PGE2 receptor agonist alleviates disease in a new mouse model of X-linked nephrogenic diabetes insipidus

Li, Jian Hua ; Chou, Chung-Lin ; Li, Bo ; Gavrilova, Oksana ; Eisner, Christoph ; Schnermann, Jürgen ; Anderson, Stasia A ; Deng, Chu-Xia ; Knepper, Mark A ; Wess, Jürgen

The Journal of clinical investigation, 2009-10, Vol.119 (10), p.3115-3126 [Peer Reviewed Journal]

United States: American Society for Clinical Investigation

Full text available online

7
A novel mutation in the endosomal Na+/H+ exchanger NHE6 ( SLC9A6 ) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)
Material Type:
Article
Add to e-Shelf

A novel mutation in the endosomal Na+/H+ exchanger NHE6 ( SLC9A6 ) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)

Zanni, Ginevra ; Barresi, Sabina ; Cohen, Roni ; Specchio, Nicola ; Basel-Vanagaite, Lina ; Valente, Enza Maria ; Shuper, Avinoam ; Vigevano, Federico ; Bertini, Enrico

Epilepsy Research, 2014, Vol.108 (4), p.811-815 [Peer Reviewed Journal]

Netherlands: Elsevier B.V

Full text available online

8
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family
Material Type:
Article
Add to e-Shelf

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

Chen, Junjue ; Wei, Yan ; Tian, Linlu ; Kang, Xiaoli

BMC medical genetics, 2019-01-07, Vol.20 (1), p.5-5 [Peer Reviewed Journal]

England: Springer Science and Business Media LLC

Full text available online

9
Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)
Material Type:
Article
Add to e-Shelf

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

Neuillé, Marion ; El Shamieh, Said ; Orhan, Elise ; Michiels, Christelle ; Antonio, Aline ; Lancelot, Marie-Elise ; Condroyer, Christel ; Bujakowska, Kinga ; Poch, Olivier ; Sahel, José-Alain ; Audo, Isabelle ; Zeitz, Christina ;Neuhauss, Stephan CF

PloS one, 2014-03-05, Vol.9 (3), p.e90342-e90342 [Peer Reviewed Journal]

United States: Public Library of Science (PLoS)

Full text available online

10
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus
Material Type:
Article
Add to e-Shelf

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus

Joris H. Robben ; Nine V. A. M. Knoers ; Peter M. T. Deen

American Journal of Physiology - Renal Physiology, 2006-08-01, Vol.291 (2), p.257-270 [Peer Reviewed Journal]

United States: American Physiological Society

Full text available online

11
Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations
Material Type:
Article
Add to e-Shelf

Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations

Sandberg, Michael A ; Rosner, Bernard ; Weigel-DiFranco, Carol ; Dryja, Thaddeus P ; Berson, Eliot L

Investigative ophthalmology & visual science, 2007-03-01, Vol.48 (3), p.1298-1304 [Peer Reviewed Journal]

United States: Association for Research in Vision and Ophthalmology (ARVO)

Full text available online

12
Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism
Material Type:
Article
Add to e-Shelf

Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism

Brüggemann, Norbert ; Heldmann, Marcus ; Klein, Christine ; Domingo, Aloysius ; Rasche, Dirk ; Tronnier, Volker ; Rosales, Raymond L ; Jamora, Roland Dominic G ; Lee, Lillian V ; Münte, Thomas F

Parkinsonism and Related Disorders, 2016, Vol.31, p.91-97 [Peer Reviewed Journal]

England: Elsevier Ltd

Full text available online

13
Phenotypic variability of Dent disease in a large New Zealand kindred
Material Type:
Article
Add to e-Shelf

Phenotypic variability of Dent disease in a large New Zealand kindred

Wong, William ; Wong, William ; Poke, Gemma ; Poke, Gemma ; Stack, Maria ; Stack, Maria ; Kara, Tonya ; Kara, Tonya ; Prestidge, Chanel ; Prestidge, Chanel ; Flintoff, Kim ; Flintoff, Kim

Pediatric Nephrology, 2017-02, Vol.32 (2), p.365-369 [Peer Reviewed Journal]

Berlin/Heidelberg: Springer Berlin Heidelberg

Full text available online

14
Evolving Practice: X‐Linked Agammaglobulinemia and Lung Transplantation
Material Type:
Article
Add to e-Shelf

Evolving Practice: X‐Linked Agammaglobulinemia and Lung Transplantation

Barnes, S ; Kotecha, S ; Douglass, J. A ; Paul, E ; Hore‐Lacey, F ; Stirling, R ; Snell, G. I ; Westall, G. P

American journal of transplantation, 2015-04, Vol.15 (4), p.1110-1113 [Peer Reviewed Journal]

United States: Wiley Subscription Services, Inc

Full text available online

15
Simple repair approach for mitral regurgitation in Barlow disease
Material Type:
Article
Add to e-Shelf

Simple repair approach for mitral regurgitation in Barlow disease

Ben Zekry, Sagit, MD ; Spiegelstein, Dan, MD ; Sternik, Leonid, MD ; Lev, Innon, MD ; Kogan, Alexander, MD ; Kuperstein, Rafael, MD ; Raanani, Ehud, MD

Journal of Thoracic and Cardiovascular Surgery, The, 2015, Vol.150 (5), p.1071-1077.e1 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available online

16
B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia
Material Type:
Article
Add to e-Shelf

B cell-specific lentiviral gene therapy leads to sustained B-cell functional recovery in a murine model of X-linked agammaglobulinemia

Kerns, Hannah M ; Ryu, Byoung Y ; Stirling, Brigid V ; Sather, Blythe D ; Astrakhan, Alexander ; Humblet-Baron, Stephanie ; Liggitt, Denny ; Rawlings, David J

Blood, 2010-03-18, Vol.115 (11), p.2146-2155 [Peer Reviewed Journal]

United States: American Society of Hematology

Full text available online

17
Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE–ASARM motif: a model for impaired mineralization in X-linked rickets (HYP)
Material Type:
Article
Add to e-Shelf

Surface plasmon resonance (SPR) confirms that MEPE binds to PHEX via the MEPE–ASARM motif: a model for impaired mineralization in X-linked rickets (HYP)

Rowe, Peter S.N ; Garrett, Ian R ; Schwarz, Patricia M ; Carnes, David L ; Lafer, Eileen M ; Mundy, Gregory R ; Gutierrez, Gloria E

Bone (New York, N.Y.), 2005-01, Vol.36 (1), p.33-46 [Peer Reviewed Journal]

United States: Elsevier Inc

Full text available online

18
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
Material Type:
Article
Add to e-Shelf

Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human

Neri, Marcella ; Torelli, Silvia ; Brown, Sue ; Ugo, Isabella ; Sabatelli, Patrizia ; Merlini, Luciano ; Spitali, Pietro ; Rimessi, Paola ; Gualandi, Francesca ; Sewry, Caroline ; Ferlini, Alessandra ; Muntoni, Francesco

Neuromuscular disorders : NMD, 2007, Vol.17 (11), p.913-918 [Peer Reviewed Journal]

England: Elsevier BV

Link to full text

19
Longitudinal decline in lung function in patients with primary immunoglobulin deficiencies
Material Type:
Article
Add to e-Shelf

Longitudinal decline in lung function in patients with primary immunoglobulin deficiencies

Chen, Yan, MB, BS ; Stirling, Rob G., MB, BS, FRACP ; Paul, Eldho, MSc ; Hore-Lacy, Fiona, BSc (Hons) ; Thompson, Bruce R., BAppSci, CRFS, PhD ; Douglass, Jo A., MD, FRACP

Journal of Allergy and Clinical Immunology, The, 2011, Vol.127 (6), p.1414-1417 [Peer Reviewed Journal]

United States: Mosby, Inc

Full text available online

20
SPR4-peptide alters bone metabolism of normal and HYP mice
Material Type:
Article
Add to e-Shelf

SPR4-peptide alters bone metabolism of normal and HYP mice

Zelenchuk, Lesya V ; Hedge, Anne-Marie ; Rowe, Peter S.N

Bone (New York, N.Y.), 2015-03, Vol.72, p.23-33 [Peer Reviewed Journal]

United States: Elsevier BV

Full text available online

Results 1 - 20 of 172  for Central Connecticut State University

Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Peer-reviewed Journals (160)

Creation Date 

From To
  1. Before 2005  (15)
  2. 2005 To 2007  (25)
  3. 2008 To 2010  (36)
  4. 2011 To 2014  (57)
  5. After 2014  (56)
  6. More options open sub menu

New Records 

  1. Last Month  (3)
  2. Last 3 Months  (15)
  3. More options open sub menu

Searching Remote Databases, Please Wait