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A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali, Samir, Jeffries, Lauren, Faustino, E. Vincent S., Ji, Weizhen, Mis, Emily, Konstantino, Monica, Zerillo, Cynthia, Jiang, Yong‐hui, Spencer‐Manzon, Michele, Bale, Allen, Zhang, Hui, McGlynn, Julie, McGrath, James M., Tremblay, Thierry, Brodsky, Nina N., Lucas, Carrie L., Pierce, Richard, Deniz, Engin, Khokha, Mustafa K., Lakhani, Saquib A.
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Identification and functional characterization of novel CYP2J2 variants: G312R variant causes loss of enzyme catalytic activity
Lee, Sang Seop, Jeong, Hye-Eun, Liu, Kwang-Hyeon, Ryu, Ji-Young, Moon, Taesung, Yoon, Chang No, Oh, S June, Yun, Chul-Ho, Shin, Jae-Gook
Published in Pharmacogenetics and genomics (01.02.2005)
Published in Pharmacogenetics and genomics (01.02.2005)
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Functional characterization of a new human Ad4BP/SF-1 variation, G146A
WuQiang, Fan, Yanase, Toshihiko, Wei, Liu, Oba, Koichi, Nomura, Masatoshi, Okabe, Taijiro, Goto, Kiminobu, Nawata, Hajime
Published in Biochemical and biophysical research communications (28.11.2003)
Published in Biochemical and biophysical research communications (28.11.2003)
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Snake venom L-amino acid oxidases: some consideration about their functional characterization
Zuliani, Juliana P, Kayano, Anderson M, Zaqueo, Kayena D, Neto, Antonio Coutinho, Sampaio, Suely V, Soares, Andreimar M, Stabeli, Rodrigo G
Published in Protein and peptide letters (01.08.2009)
Published in Protein and peptide letters (01.08.2009)
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FUNCTIONAL CHARACTERIZATION OF FIVE NOVEL CYP2C8 VARIANTS, G171S, R186X, R186G, K247R, AND K383N, FOUND IN A JAPANESE POPULATION
Hichiya, Hiroyuki, Tanaka-Kagawa, Toshiko, Soyama, Akiko, Jinno, Hideto, Koyano, Satoru, Katori, Noriko, Matsushima, Erika, Uchiyama, Shigehisa, Tokunaga, Hiroshi, Kimura, Hideo, Minami, Narihiro, Katoh, Masaaki, Sugai, Kenji, Goto, Yu-ichi, Tamura, Tomohide, Yamamoto, Noboru, Ohe, Yuichiro, Kunitoh, Hideo, Nokihara, Hiroshi, Yoshida, Teruhiko, Minami, Hironobu, Saijo, Nagahiro, Ando, Masanori, Ozawa, Shogo, Saito, Yoshiro, Sawada, Jun-ichi
Published in Drug metabolism and disposition (01.05.2005)
Published in Drug metabolism and disposition (01.05.2005)
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Fine phenotypic and functional characterization of effector CD8+ T cells in patients with Primary Biliary Cirrhosis
Tsuda, Masanobu, Ambrosini, Yoko M., Zhang, Weici, Yang, Guo-Xiang, Ando, Yugo, Rong, Guanghua, Tsuneyama, Koichi, Sumida, Kosuke, Shimoda, Shinji, Bowlus, Christopher L., Leung, Patrick S.C., He, Xiao-Song, Coppel, Ross L., Ansari, Aftab A., Lian, Zhe-Xiong, Gershwin, M. Eric
Published in Hepatology (Baltimore, Md.) (01.10.2011)
Published in Hepatology (Baltimore, Md.) (01.10.2011)
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Combining transcriptomics-based and proteomics-based approaches for functional characterization of terpene synthases of “Arnica da Serra” (Asteraceae)
Pavarini, DP, Oliveira, LP, Pereira, LM, Natsui, AP, Spring, O, Lopes, NP
Published in Planta medica (21.08.2013)
Published in Planta medica (21.08.2013)
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Functional characterization of antibodies against heparin-platelet factor 4 complex in heparin-induced thrombocytopenia patients in Asian-Indians: relevance to inflammatory markers
Kannan, Meganathan, Ahmad, Sarfraz, Ahmad, Firdos, Kale, Shailaja, Hoppensteadt, Debra A, Fareed, Jawed, Saxena, Renu
Published in Blood coagulation & fibrinolysis (01.10.2005)
Published in Blood coagulation & fibrinolysis (01.10.2005)
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Identification and functional characterization of loss-of-function mutations of the calcium-sensing receptor in four Italian kindreds with familial hypocalciuric hypercalcemia
Cetani, Filomena, Lemmi, Monica, Cervia, Davide, Borsari, Simona, Cianferotti, Luisella, Pardi, Elena, Ambrogini, Elena, Banti, Chiara, Brown, Edward M, Bagnoli, Paola, Pinchera, Aldo, Marcocci, Claudio
Published in European journal of endocrinology (01.03.2009)
Published in European journal of endocrinology (01.03.2009)
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Identification and functional characterization of a homozygous, inactivating CaSR mutation in a patient with rickets
Szczawinska, D, Mayr, B, Letz, S, Rus, R, Schnabel, D, Schöfl, C
Published in Experimental and clinical endocrinology & diabetes (07.03.2013)
Published in Experimental and clinical endocrinology & diabetes (07.03.2013)
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Molecular Template for a Voltage Sensor in a Novel K+ Channel. I. Identification and Functional Characterization of KvLm, a Voltage-gated K+ Channel from Listeria monocytogenes
Santos, Jose S., Lundby, Alicia, Zazueta, Cecilia, Montal, Mauricio
Published in The Journal of general physiology (01.09.2006)
Published in The Journal of general physiology (01.09.2006)
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Identification and functional characterization of a missense mutation in resistin in two patients with severe obesity and insulin resistance
Beckers, Sigri, de Freitas, Fenna, Zegers, Doreen, Verrijken, An, Peeters, Armand V, Peiffer, Frida, Verhulst, Stijn L, Massa, Guy, Mertens, Ilse L, Desager, Kristine N, Van Gaal, Luc F, Van Hul, Wim
Published in European journal of endocrinology (01.06.2011)
Published in European journal of endocrinology (01.06.2011)
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Functional Characterization of Polymorphisms in the Kidney Enhancer of the Human Renin Gene
Itani, Hana A., Liu, Xuebo, Pratt, J. Howard, Sigmund, Curt D.
Published in Endocrinology (Philadelphia) (01.03.2007)
Published in Endocrinology (Philadelphia) (01.03.2007)
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Functional Characterization of Naturally Occurring Mutant Androgen Receptors from Subjects with Complete Androgen Insensitivity
Brown, Terry R., Lubahn, Dennis B., Wilson, Elizabeth M., French, Frank S., Migeon, Claude J., Corden, Jeffry L.
Published in Molecular endocrinology (Baltimore, Md.) (01.12.1990)
Published in Molecular endocrinology (Baltimore, Md.) (01.12.1990)
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Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit
Pirone, Antonella, Schredelseker, Johann, Tuluc, Petronel, Gravino, Elvira, Fortunato, Giuliana, Flucher, Bernhard E, Carsana, Antonella, Salvatore, Francesco, Grabner, Manfred
Published in American Journal of Physiology: Cell Physiology (01.12.2010)
Published in American Journal of Physiology: Cell Physiology (01.12.2010)
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