Results
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561.
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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. [electronic resource] by
- Brownstein, Catherine A
- Towne, Meghan C
- Luquette, Lovelace J
- Harris, David J
- Marinakis, Nicholas S
- Meinecke, Peter
- Kutsche, Kerstin
- Campeau, Philippe M
- Yu, Timothy W
- Margulies, David M
- Agrawal, Pankaj B
- Beggs, Alan H
Producer: 20140716
In:
European journal of medical genetics vol. 56
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562.
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A non-mosaic [electronic resource] by
- Madan, Simran
- Liu, Wei
- Lu, James T
- Sutton, V Reid
- Toth, Bryant
- Joe, Priscilla
- Waterson, John R
- Gibbs, Richard A
- Van den Veyver, Ignatia B
- Lammer, Edward J
- Campeau, Philippe M
- Lee, Brendan H
Publication details: Molecular genetics and metabolism reports Sep 2017
In:
Molecular genetics and metabolism reports vol. 12
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563.
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Arginase overexpression in neurons and its effect on traumatic brain injury. [electronic resource] by
- Madan, Simran
- Kron, Bettina
- Jin, Zixue
- Al Shamy, George
- Campeau, Philippe M
- Sun, Qin
- Chen, Shan
- Cherian, Leela
- Chen, Yuqing
- Munivez, Elda
- Jiang, Ming-Ming
- Robertson, Claudia
- Goodman, Clay
- Ratan, Rajiv R
- Lee, Brendan
Producer: 20190426
In:
Molecular genetics and metabolism vol. 125
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564.
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Embedded clutter reduction and face detection algorithms for a visual prosthesis. [electronic resource] by
- Rollend, Derek M
- Rosendall, Paul E
- Wolfe, Kevin C
- Kleissas, Dean M
- Billings, Seth D
- Oben, Jonathan M
- Helder, John B
- Tenore, Francesco V
- Burlina, Philippe M
- Roy, Arup
- Greenberg, Robert
- Katyal, Kapil D
Producer: 20170807
In:
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference vol. 2016
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565.
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Deep learning in ophthalmology: The technical and clinical considerations. [electronic resource] by
- Ting, Daniel S W
- Peng, Lily
- Varadarajan, Avinash V
- Keane, Pearse A
- Burlina, Philippe M
- Chiang, Michael F
- Schmetterer, Leopold
- Pasquale, Louis R
- Bressler, Neil M
- Webster, Dale R
- Abramoff, Michael
- Wong, Tien Y
Producer: 20200304
In:
Progress in retinal and eye research vol. 72
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566.
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Effective treatment of invasive Aspergillus fumigatus infection using combinations of topical and systemic antifungals in a severely burned patient. [electronic resource] by
- Fournier, Anne
- Pantet, Olivier
- Guerid, Samia
- Eggimann, Philippe
- Pagani, Jean-Luc
- Revelly, Jean-Pierre
- Hauser, Philippe M
- Marchetti, Oscar
- Fontanella, Sara
- Letovanec, Igor
- Ravat, François
- Berger, Mette M
- Pannatier, André
- Voirol, Pierre
- Que, Yok-Ai
Producer: 20151125
In:
Journal of burn care & research : official publication of the American Burn Association vol. 36
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567.
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Further insights into the chemistry of the Bi-U-O system. [electronic resource] by
- Popa, Karin
- Prieur, Damien
- Manara, Dario
- Naji, Mohamed
- Vigier, Jean-François
- Martin, Philippe M
- Dieste Blanco, Oliver
- Scheinost, Andreas C
- Prüβmann, Tim
- Vitova, Tonya
- Raison, Philippe E
- Somers, Joseph
- Konings, Rudy J M
Producer: 20170609
In:
Dalton transactions (Cambridge, England : 2003) vol. 45
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568.
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Evaluation of therapeutic control in a Pakistani population with hypertension. [electronic resource] by
- Saleheen, Danish
- Hashmi, Saman K
- Zaidi, Moazzam
- Rasheed, Asif
- Murtaza, Muhammed
- Abbas, Adil
- Nasim, Sana
- Hameed, Mustafa Qadir
- Shuja, Fahad
- Sethi, Muhammad Jawad
- Hussain, Imad
- Shahid, Kamran
- Khalid, Hamza
- Ahmad, Usman
- Frossard, Philippe M
- Ishaq, Muhammad
Producer: 20110502
In:
Journal of evaluation in clinical practice vol. 16
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569.
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Diagnosis of peripheral psoriatic arthritis: recommendations for clinical practice based on data from the literature and experts opinion. [electronic resource] by
- Salliot, Carine
- Dernis, Emmanuelle
- Lavie, Frédéric
- Cantagrel, Alain
- Gaudin, Philippe
- Wendling, Daniel
- Claudepierre, Pascal
- Flipo, René-Marc
- Goupille, Philippe-M
- Le Loët, Xavier
- Maillefert, Jean-François
- Paul, Carle
- Saraux, Alain
- Schaeverbeke, Thierry
- Tebib, Jacques
- Combe, Bernard
Producer: 20100108
In:
Joint bone spine vol. 76
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570.
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes. [electronic resource] by
- Aref-Eshghi, Erfan
- Rodenhiser, David I
- Schenkel, Laila C
- Lin, Hanxin
- Skinner, Cindy
- Ainsworth, Peter
- Paré, Guillaume
- Hood, Rebecca L
- Bulman, Dennis E
- Kernohan, Kristin D
- Boycott, Kym M
- Campeau, Philippe M
- Schwartz, Charles
- Sadikovic, Bekim
Producer: 20181211
In:
American journal of human genetics vol. 102
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571.
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Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. [electronic resource] by
- Mumm, Steven
- Gottesman, Gary S
- Wenkert, Deborah
- Campeau, Philippe M
- Nenninger, Angela
- Huskey, Margaret
- Bijanki, Vinieth N
- Veis, Deborah J
- Barnes, Aileen M
- Marini, Joan C
- Stolina, Marina
- Zhang, Fan
- McAlister, William H
- Whyte, Michael P
Producer: 20210617
In:
Bone vol. 130
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572.
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VFV as a New Effective CYP51 Structure-Derived Drug Candidate for Chagas Disease and Visceral Leishmaniasis. [electronic resource] by
- Lepesheva, Galina I
- Hargrove, Tatiana Y
- Rachakonda, Girish
- Wawrzak, Zdzislaw
- Pomel, Sébastien
- Cojean, Sandrine
- Nde, Pius N
- Nes, W David
- Locuson, Charles W
- Calcutt, M Wade
- Waterman, Michael R
- Daniels, J Scott
- Loiseau, Philippe M
- Villalta, Fernando
Producer: 20160126
In:
The Journal of infectious diseases vol. 212
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573.
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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. [electronic resource] by
- Ajeawung, Norbert F
- Nguyen, Thi Tuyet Mai
- Lu, Linchao
- Kucharski, Thomas J
- Rousseau, Justine
- Molidperee, Sirinart
- Atienza, Joshua
- Gamache, Isabel
- Jin, Weidong
- Plon, Sharon E
- Lee, Brendan H
- Teodoro, Jose G
- Wang, Lisa L
- Campeau, Philippe M
Producer: 20200402
In:
American journal of human genetics vol. 105
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574.
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Revisiting Previously Investigated Plants: A Molecular Networking-Based Study of Geissospermum laeve. [electronic resource] by
- Fox Ramos, Alexander E
- Alcover, Charlotte
- Evanno, Laurent
- Maciuk, Alexandre
- Litaudon, Marc
- Duplais, Christophe
- Bernadat, Guillaume
- Gallard, Jean-François
- Jullian, Jean-Christophe
- Mouray, Elisabeth
- Grellier, Philippe
- Loiseau, Philippe M
- Pomel, Sébastien
- Poupon, Erwan
- Champy, Pierre
- Beniddir, Mehdi A
Producer: 20170726
In:
Journal of natural products vol. 80
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575.
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Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS). [electronic resource] by
- Chen, Shan
- Jain, Mahim
- Jhangiani, Shalini
- Akdemir, Zeynep C
- Campeau, Philippe M
- Klein, Robert F
- Nielson, Carrie
- Dai, Hongzheng
- Muzny, Donna M
- Boerwinkle, Eric
- Gibbs, Richard A
- Orwoll, Eric S
- Lupski, James R
- Posey, Jennifer E
- Lee, Brendan
Publication details: JBMR plus Mar 2020
In:
JBMR plus vol. 4
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576.
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Molecular detection and identification of zygomycetes species from paraffin-embedded tissues in a murine model of disseminated zygomycosis: a collaborative European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Fungal Infection Study Group (EFISG) evaluation. [electronic resource] by
- Dannaoui, Eric
- Schwarz, Patrick
- Slany, Michal
- Loeffler, Juergen
- Jorde, Anne Tomine
- Cuenca-Estrella, Manuel
- Hauser, Philippe M
- Shrief, Raghdaa
- Huerre, Michel
- Freiberger, Tomas
- Gaustad, Peter
- Rodriguez-Tudela, Juan-Luis
- Bille, Jacques
- Denning, David W
- Bretagne, Stéphane
- Lortholary, Olivier
Producer: 20100914
In:
Journal of clinical microbiology vol. 48
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577.
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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons. [electronic resource] by
- Finelli, Mattéa J
- Aprile, Davide
- Castroflorio, Enrico
- Jeans, Alexander
- Moschetta, Matteo
- Chessum, Lauren
- Degiacomi, Matteo T
- Grasegger, Julia
- Lupien-Meilleur, Alexis
- Bassett, Andrew
- Rossignol, Elsa
- Campeau, Philippe M
- Bowl, Michael R
- Benfenati, Fabio
- Fassio, Anna
- Oliver, Peter L
Producer: 20190621
In:
Human molecular genetics vol. 28
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578.
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Multicenter, prospective clinical evaluation of respiratory samples from subjects at risk for Pneumocystis jirovecii infection by use of a commercial real-time PCR assay. [electronic resource] by
- Hauser, Philippe M
- Bille, Jacques
- Lass-Flörl, Cornelia
- Geltner, Christian
- Feldmesser, Marta
- Levi, Michael
- Patel, Hitesh
- Muggia, Victoria
- Alexander, Barbara
- Hughes, Martin
- Follett, Sarah A
- Cui, Xiaohui
- Leung, Flora
- Morgan, Gillian
- Moody, Adrian
- Perlin, David S
- Denning, David W
Producer: 20110726
In:
Journal of clinical microbiology vol. 49
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579.
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Epilepsy in KCNH1-related syndromes. [electronic resource] by
- Mastrangelo, Mario
- Scheffer, Ingrid E
- Bramswig, Nuria C
- Nair, Lal D V
- Myers, Candace T
- Dentici, Maria Lisa
- Korenke, Georg C
- Schoch, Kelly
- Campeau, Philippe M
- White, Susan M
- Shashi, Vandana
- Kansagra, Sujay
- Van Essen, Anthonie J
- Leuzzi, Vincenzo
Producer: 20170214
In:
Epileptic disorders : international epilepsy journal with videotape vol. 18
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580.
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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder. [electronic resource] by
- Thompson, Miles D
- Knaus, Alexej A
- Barshop, Bruce A
- Caliebe, Almuth
- Muhle, Hiltrud
- Nguyen, Thi Tuyet Mai
- Baratang, Nissan V
- Kinoshita, Taroh
- Percy, Maire E
- Campeau, Philippe M
- Murakami, Yoshiko
- Cole, David E
- Krawitz, Peter M
- Mabry, C Charlton
Producer: 20201231
In:
European journal of medical genetics vol. 63
Availability: No items available.
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