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Results 1 - 20 of 1,067  for Central Connecticut State University

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1
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

de Ligt, Joep ; Willemsen, Marjolein H ; van Bon, Bregje W.M ; Kleefstra, Tjitske ; Yntema, Helger G ; Kroes, Thessa ; Vulto-van Silfhout, Anneke T ; Koolen, David A ; de Vries, Bert B.A ; de Vries, Petra ; Gilissen, Christian ; del Rosario, Marisol ; Hoischen, Alexander ; Scheffer, Hans ; Brunner, Han G ; Veltman, Joris A ; Vissers, Lisenka E.L.M

The New England journal of medicine, 2012-11-15, Vol.367 (20), p.1921-1929 [Peer Reviewed Journal]

Waltham, MA: Massachusetts Medical Society

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2
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
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Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Lo Giudice, Temistocle ; Lombardi, Federica ; Santorelli, Filippo Maria ; Kawarai, Toshitaka ; Orlacchio, Antonio

Experimental neurology, 2014-11, Vol.261, p.518-539 [Peer Reviewed Journal]

United States: Elsevier Inc

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3
X chromosome regulation: diverse patterns in development, tissues and disease
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X chromosome regulation: diverse patterns in development, tissues and disease

Deng, Xinxian ; Berletch, Joel B ; Nguyen, Di K ; Disteche, Christine M

Nature reviews. Genetics, 2014-06, Vol.15 (6), p.367-378 [Peer Reviewed Journal]

England: Nature Publishing Group

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4
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Monies, Dorota ; Abouelhoda, Mohammed ; Assoum, Mirna ; Moghrabi, Nabil ; Rafiullah, Rafiullah ; Almontashiri, Naif ; Alowain, Mohammed ; Alzaidan, Hamad ; Alsayed, Moeen ; Subhani, Shazia ; Cupler, Edward ; Faden, Maha ; Alhashem, Amal ; Qari, Alya ; Chedrawi, Aziza ; Aldhalaan, Hisham ; Kurdi, Wesam ; Khan, Sameena ; Rahbeeni, Zuhair ; Alotaibi, Maha ; Goljan, Ewa ; Elbardisy, Hadeel ; ElKalioby, Mohamed ; Shah, Zeeshan ; Alruwaili, Hibah ; Jaafar, Amal ; Albar, Ranad ; Akilan, Asma ; Tayeb, Hamsa ; Tahir, Asma ; Fawzy, Mohammed ; Nasr, Mohammed ; Makki, Shaza ; Alfaifi, Abdullah ; Akleh, Hanna ; Yamani, Suad ; Bubshait, Dalal ; Mahnashi, Mohammed ; Basha, Talal ; Alsagheir, Afaf ; Abu Khaled, Musad ; Alsaleem, Khalid ; Almugbel, Maisoon ; Badawi, Manal ; Bashiri, Fahad ; Bohlega, Saeed ; Sulaiman, Raashida ; Tous, Ehab ; Ahmed, Syed ; Algoufi, Talal ; Al-Mousa, Hamoud ; Alaki, Emadia ; Alhumaidi, Susan ; Alghamdi, Hadeel ; Alghamdi, Malak ; Sahly, Ahmed ; Nahrir, Shapar ; Al-Ahmari, Ali ; Alkuraya, Hisham ; Almehaidib, Ali ; Abanemai, Mohammed ; Alsohaibaini, Fahad ; Alsaud, Bandar ; Arnaout, Rand ; Abdel-Salam, Ghada M.H ; Aldhekri, Hasan ; AlKhater, Suzan ; Alqadi, Khalid ; Alsabban, Essam ; Alshareef, Turki ; Awartani, Khalid ; Banjar, Hanaa ; Alsahan, Nada ; Abosoudah, Ibraheem ; Alashwal, Abdullah ; Aldekhail, Wajeeh ; Alhajjar, Sami ; Al-Mayouf, Sulaiman ; Alsemari, Abdulaziz ; Alshuaibi, Walaa ; Altala, Saeed ; Altalhi, Abdulhadi ; Baz, Salah ; Hamad, Muddathir ; Abalkhail, Tariq ; Alenazi, Badi ; Alkaff, Alya ; Almohareb, Fahad ; Al Mutairi, Fuad ; Alsaleh, Mona ; Alsonbul, Abdullah ; Alzelaye, Somaya ; Bahzad, Shakir ; Manee, Abdulaziz Bin ; Jarrad, Ola ; Meriki, Neama ; Albeirouti, Bassem ; Alqasmi, Amal ; AlBalwi, Mohammed ; Makhseed, Nawal ; ...

American journal of human genetics, 2019-06-06, Vol.104 (6), p.1182-1201 [Peer Reviewed Journal]

United States: Elsevier Inc

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5
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA
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Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

Charbonnier, Louis-Marie, PhD ; Janssen, Erin, MD, PhD ; Chou, Janet, MD ; Ohsumi, Toshiro K., PhD ; Keles, Sevgi, MD ; Hsu, Joyce T., MD ; Massaad, Michel J., PhD ; Garcia-Lloret, Maria, MD ; Hanna-Wakim, Rima, MD ; Dbaibo, Ghassan, MD ; Alangari, Abdullah A., MD ; Alsultan, Abdulrahman, MD ; Al-Zahrani, Daifulah, MD ; Geha, Raif S., MD ; Chatila, Talal A., MD, MSc

Journal of allergy and clinical immunology, 2014, Vol.135 (1), p.217-227.e9 [Peer Reviewed Journal]

United States: Elsevier Inc

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6
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Chakraborty, Pranesh K ; Schmitz-Abe, Klaus ; Kennedy, Erin K ; Mamady, Hapsatou ; Naas, Turaya ; Durie, Danielle ; Campagna, Dean R ; Lau, Ashley ; Sendamarai, Anoop K ; Wiseman, Daniel H ; May, Alison ; Jolles, Stephen ; Connor, Philip ; Powell, Colin ; Heeney, Matthew M ; Giardina, Patricia-Jane ; Klaassen, Robert J ; Kannengiesser, Caroline ; Thuret, Isabelle ; Thompson, Alexis A ; Marques, Laura ; Hughes, Stephen ; Bonney, Denise K ; Bottomley, Sylvia S ; Wynn, Robert F ; Laxer, Ronald M ; Minniti, Caterina P ; Moppett, John ; Bordon, Victoria ; Geraghty, Michael ; Joyce, Paul B M ; Markianos, Kyriacos ; Rudner, Adam D ; Holcik, Martin ; Fleming, Mark D

Blood, 2014-10-30, Vol.124 (18), p.2867-2871 [Peer Reviewed Journal]

United States: American Society of Hematology

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7
Autoimmune Polyendocrine Syndromes
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Autoimmune Polyendocrine Syndromes

Husebye, Eystein S ; Anderson, Mark S ; Kämpe, Olle ;Ingelfinger, Julie R

The New England journal of medicine, 2018-03-22, Vol.378 (12), p.1132-1141 [Peer Reviewed Journal]

United States: Massachusetts Medical Society

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8
Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome
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Mobile Interspersed Repeats Are Major Structural Variants in the Human Genome

Huang, Cheng Ran Lisa ; Schneider, Anna M ; Lu, Yunqi ; Niranjan, Tejasvi ; Shen, Peilin ; Robinson, Matoya A ; Steranka, Jared P ; Valle, David ; Civin, Curt I ; Wang, Tao ; Wheelan, Sarah J ; Ji, Hongkai ; Boeke, Jef D ; Burns, Kathleen H

Cell (Cambridge), 2010-06-25, Vol.141 (7), p.1171-1182 [Peer Reviewed Journal]

United States: Elsevier Inc

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9
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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10
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
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Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

Hayflick, Susan J ; Kruer, Michael C ; Gregory, Allison ; Haack, Tobias B ; Kurian, Manju A ; Houlden, Henry H ; Anderson, James ; Boddaert, Nathalie ; Sanford, Lynn ; Harik, Sami I ; Dandu, Vasuki H ; Nardocci, Nardo ; Zorzi, Giovanna ; Dunaway, Todd ; Tarnopolsky, Mark ; Skinner, Steven ; Holden, Kenton R ; Frucht, Steven ; Hanspal, Era ; Schrander-Stumpel, Connie ; Mignot, Cyril ; Heron, Delphine ; Saunders, Dawn E ; Kaminska, Margaret ; Lin, Jean-Pierre ; Lascelles, Karine ; Cuno, Stephan M ; Meyer, Esther ; Garavaglia, Barbara ; Bhatia, Kailash ; de Silva, Rajith ; Crisp, Sarah ; Lunt, Peter ; Carey, Martyn ; Hardy, John ; Meitinger, Thomas ; Prokisch, Holger ; Hogarth, Penelope

Brain (London, England : 1878), 2013-06, Vol.136 (6), p.1708-1717 [Peer Reviewed Journal]

Oxford: Oxford University Press

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11
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Olcese, C ; Patel, M.P ; Shoemark, A ; Kiviluoto, S ; Legene, M ; Williams, H.J ; Vaughan, C.K ; Hayward, J ; Goldenberg, A ; Emes, R.D ; Munye, M.M ; Dyer, L ; Cahill, T ; Bevillard, J ; Gehrig, C ; Guipponi, M ; Chantot, S ; Duquesnoy, P ; Thomas, L ; Jeanson, L ; Copin, B ; Tamalet, A ; Thauvin-Robinet, C ; Papon, J.F ; Garin, A ; Pin, I ; Vera, G ; Aurora, P ; Fassad, M.R ; Jenkins, L ; Boustred, C ; Cullup, T ; Dixon, M ; Onoufriadis, A ; Bush, A ; Chung, E.M ; Antonarakis, S.E ; Loebinger, M.R ; Wilson, R ; Armengot, M ; Escudier, E ; Hogg, C ; Amselem, S ; Sun, Z ; Bartoloni, L ; Blouin, J.L ; Mitchison, H.M ; Schmidts, M ; et al

Nature communications, 2017, Vol.8 (1), p.14279-14279 [Peer Reviewed Journal]

England: Nature Publishing Group

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12
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
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Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Barzaghi, Federica ; Amaya Hernandez, Laura Cristina ; Neven, Benedicte ; Ricci, Silvia ; Kucuk, Zeynep Yesim ; Bleesing, Jack J ; Nademi, Zohreh ; Slatter, Mary Anne ; Ulloa, Erlinda Rose ; Shcherbina, Anna ; Roppelt, Anna ; Worth, Austen ; Silva, Juliana ; Aiuti, Alessandro ; Murguia-Favela, Luis ; Speckmann, Carsten ; Carneiro-Sampaio, Magda ; Fernandes, Juliana Folloni ; Baris, Safa ; Ozen, Ahmet ; Karakoc-Aydiner, Elif ; Kiykim, Ayca ; Schulz, Ansgar ; Steinmann, Sandra ; Notarangelo, Lucia Dora ; Gambineri, Eleonora ; Lionetti, Paolo ; Shearer, William Thomas ; Forbes, Lisa R ; Martinez, Caridad ; Moshous, Despina ; Blanche, Stephane ; Fisher, Alain ; Ruemmele, Frank M ; Tissandier, Come ; Ouachee-Chardin, Marie ; Rieux-Laucat, Frédéric ; Cavazzana, Marina ; Qasim, Waseem ; Lucarelli, Barbarella ; Albert, Michael H ; Kobayashi, Ichiro ; Alonso, Laura ; Diaz De Heredia, Cristina ; Kanegane, Hirokazu ; Lawitschka, Anita ; Seo, Jong Jin ; Gonzalez-Vicent, Marta ; Diaz, Miguel Angel ; Goyal, Rakesh Kumar ; Sauer, Martin G ; Yesilipek, Akif ; Kim, Minsoo ; Yilmaz-Demirdag, Yesim ; Bhatia, Monica ; Khlevner, Julie ; Richmond Padilla, Erick J ; Martino, Silvana ; Montin, Davide ; Neth, Olaf ; Molinos-Quintana, Agueda ; Valverde-Fernandez, Justo ; Broides, Arnon ; Pinsk, Vered ; Ballauf, Antje ; Haerynck, Filomeen ; Bordon, Victoria ; Dhooge, Catharina ; Garcia-Lloret, Maria Laura ; Bredius, Robbert G ; Kałwak, Krzysztof ; Haddad, Elie ; Seidel, Markus Gerhard ; Duckers, Gregor ; Pai, Sung-Yun ; Dvorak, Christopher C ; Ehl, Stephan ; Locatelli, Franco ; Goldman, Frederick ; Gennery, Andrew Richard ; Cowan, Mort J ; Roncarolo, Maria-Grazia ; Bacchetta, Rosa

Journal of allergy and clinical immunology, 2018-03, Vol.141 (3), p.1036-1049.e5 [Peer Reviewed Journal]

United States: Elsevier Inc

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13
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Aneichyk, Tatsiana ; Hendriks, William T ; Yadav, Rachita ; Shin, David ; Gao, Dadi ; Vaine, Christine A ; Collins, Ryan L ; Domingo, Aloysius ; Currall, Benjamin ; Stortchevoi, Alexei ; Multhaupt-Buell, Trisha ; Penney, Ellen B ; Cruz, Lilian ; Dhakal, Jyotsna ; Brand, Harrison ; Hanscom, Carrie ; Antolik, Caroline ; Dy, Marisela ; Ragavendran, Ashok ; Underwood, Jason ; Cantsilieris, Stuart ; Munson, Katherine M ; Eichler, Evan E ; Acuña, Patrick ; Go, Criscely ; Jamora, R. Dominic G ; Rosales, Raymond L ; Church, Deanna M ; Williams, Stephen R ; Garcia, Sarah ; Klein, Christine ; Müller, Ulrich ; Wilhelmsen, Kirk C ; Timmers, H. T. Marc ; Sapir, Yechiam ; Wainger, Brian J ; Henderson, Daniel ; Ito, Naoto ; Weisenfeld, Neil ; Jaffe, David ; Sharma, Nutan ; Breakefield, Xandra O ; Ozelius, Laurie J ; Bragg, D. Cristopher ; Talkowski, Michael E

Cell (Cambridge), 2018-02-22, Vol.172 (5), p.897-909.e21 [Peer Reviewed Journal]

United States: Elsevier Inc

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14
X-Linked Thrombophilia with a Mutant Factor IX (Factor IX Padua)
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X-Linked Thrombophilia with a Mutant Factor IX (Factor IX Padua)

Simioni, Paolo ; Tormene, Daniela ; Tognin, Giulio ; Gavasso, Sabrina ; Bulato, Cristiana ; Iacobelli, Nicholas P ; Finn, Jonathan D ; Spiezia, Luca ; Radu, Claudia ; Arruda, Valder R

The New England journal of medicine, 2009-10-22, Vol.361 (17), p.1671-1675 [Peer Reviewed Journal]

Waltham, MA: Massachusetts Medical Society

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15
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
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Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

Uzel, Gulbu, MD ; Sampaio, Elizabeth P., MD, PhD ; Lawrence, Monica G., MD ; Hsu, Amy P., BA ; Hackett, Mary, BSN ; Dorsey, Morna J., MD ; Noel, Richard J., MD ; Verbsky, James W., MD, PhD ; Freeman, Alexandra F., MD ; Janssen, Erin, MD ; Bonilla, Francisco A., MD, PhD ; Pechacek, Joseph, MS ; Chandrasekaran, Prabha, PhD ; Browne, Sarah K., MD ; Agharahimi, Anahita, MSN, CRNP ; Gharib, Ahmed M., MD ; Mannurita, Sara C., MD ; Yim, Jae Joon, MD, MPH ; Gambineri, Eleonora, MD ; Torgerson, Troy, MD, PhD ; Tran, Dat Q., MD ; Milner, Joshua D., MD ; Holland, Steven M., MD

Journal of allergy and clinical immunology, 2013, Vol.131 (6), p.1611-1623.e3 [Peer Reviewed Journal]

New York, NY: Mosby, Inc

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16
The plasma membrane calcium pump in health and disease
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The plasma membrane calcium pump in health and disease

Brini, Marisa ; Calì, Tito ; Ottolini, Denis ; Carafoli, Ernesto

The FEBS journal, 2013-11, Vol.280 (21), p.5385-5397 [Peer Reviewed Journal]

England: Wiley Subscription Services, Inc

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17
Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects
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Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Myklebust, Line M ; Van Damme, Petra ; Støve, Svein I ; Dörfel, Max J ; Abboud, Angèle ; Kalvik, Thomas V ; Grauffel, Cedric ; Jonckheere, Veronique ; Wu, Yiyang ; Swensen, Jeffrey ; Kaasa, Hanna ; Liszczak, Glen ; Marmorstein, Ronen ; Reuter, Nathalie ; Lyon, Gholson J ; Gevaert, Kris ; Arnesen, Thomas

Human molecular genetics, 2015-04-01, Vol.24 (7), p.1956-1976 [Peer Reviewed Journal]

England: Oxford University Press

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18
Human genetics of infectious diseases: Unique insights into immunological redundancy
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Human genetics of infectious diseases: Unique insights into immunological redundancy

Casanova, Jean-Laurent ; Abel, Laurent

Seminars in immunology, 2018-04, Vol.36, p.1-12 [Peer Reviewed Journal]

England: Elsevier Ltd

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19
Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects
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Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

Daly, Adrian F ; Yuan, Bo ; Fina, Frederic ; Caberg, Jean-Hubert ; Trivellin, Giampaolo ; Rostomyan, Liliya ; de Herder, Wouter W ; Naves, Luciana A ; Metzger, Daniel ; Cuny, Thomas ; Rabl, Wolfgang ; Shah, Nalini ; Jaffrain-Rea, Marie-Lise ; Zatelli, Maria Chiara ; Faucz, Fabio R ; Castermans, Emilie ; Nanni-Metellus, Isabelle ; Lodish, Maya ; Muhammad, Ammar ; Palmeira, Leonor ; Potorac, Iulia ; Mantovani, Giovanna ; Neggers, Sebastian J ; Klein, Marc ; Barlier, Anne ; Liu, Pengfei ; Ouafik, L’Houcine ; Bours, Vincent ; Lupski, James R ; Stratakis, Constantine A ; Beckers, Albert

Endocrine-related cancer, 2016-04, Vol.23 (4), p.221-233 [Peer Reviewed Journal]

England: Bioscientifica Ltd

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20
Evolution on the X chromosome: unusual patterns and processes
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Evolution on the X chromosome: unusual patterns and processes

Charlesworth, Brian ; Vicoso, Beatriz

Nature reviews. Genetics, 2006-08, Vol.7 (8), p.645-653 [Peer Reviewed Journal]

London: Nature Publishing Group

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