Aroma enhancement and enzymolysis regulation of grape wine using β-glycosidase

por Zhu, Feng-Mei, Du, Bin, Li, Jun
Publicado 2014

Chemical composition, antioxidant, antimicrobial and cytotoxic activities of Tagetes minuta and Ocimum basilicum essential oils

por Shirazi, Mohsen Taheri, Gholami, Hamid, Kavoosi, Gholamreza, Rowshan, Vahid, Tafsiry, Asad
Publicado 2014

Quantification of isocyanates and amines in polyurethane foams and coated products by liquid chromatography–tandem mass spectrometry

por Mutsuga, Motoh, Yamaguchi, Miku, Kawamura, Yoko
Publicado 2014

The characterization of the physicochemical and sensory properties of full-fat, reduced-fat and low-fat bovine, caprine, and ovine Greek yogurt (Labneh)

por Atamian, Samson, Olabi, Ammar, Kebbe Baghdadi, Omar, Toufeili, Imad
Publicado 2014

Study to find the best extraction solvent for use with guava leaves (Psidium guajava L.) for high antioxidant efficacy

por Seo, Jongkwon, Lee, Soojung, Elam, Marcus L, Johnson, Sarah A, Kang, Jonghoon, Arjmandi, Bahram H
Publicado 2014

Influence of storage temperature and time on the physicochemical and bioactive properties of roselle-fruit juice blends in plastic bottle

por Mgaya-Kilima, Beatrice, Remberg, Siv Fagertun, Chove, Bernard Elias, Wicklund, Trude
Publicado 2014

Issue Information

Publicado 2014

Newborn screening: the genomic challenge

por Levy, Harvey L
Publicado 2014

Genetics and genomic medicine in Israel

por Zlotogora, Joël
Publicado 2014

SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

por Sandoval, Gloria Tatiana Vinasco, Jaimes, Giovanna Carola, Barrios, Mauricio Coll, Cespedes, Camila, Velasco, Harvy Mauricio
Publicado 2014

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

por Alazami, Anas M, Seidahmed, Mohammed Zain, Alzahrani, Fatema, Mohammed, Adam O, Alkuraya, Fowzan S
Publicado 2014

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

por González-Vioque, Emiliano, Bornstein, Belén, Gallardo, María Esther, Fernández-Moreno, Miguel Ángel, Garesse, Rafael
Publicado 2014

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

por Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Publicado 2014

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet–Biedl family

por González-del Pozo, María, Méndez-Vidal, Cristina, Santoyo-Lopez, Javier, Vela-Boza, Alicia, Bravo-Gil, Nereida, Rueda, Antonio, García-Alonso, Luz, Vázquez-Marouschek, Carmen, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Publicado 2014

Nemaline myopathy caused byTNNT1 mutations in a Dutch pedigree

por van der Pol, W Ludo, Leijenaar, Jolien F, Spliet, Wim G M, Lavrijsen, Selma W, Jansen, Nicolaas J G, Braun, Kees P J, Mulder, Marcel, Timmers-Raaijmakers, Brigitte, Ratsma, Kimberly, Dooijes, Dennis, van Haelst, Mieke M
Publicado 2014

Analysis of PRICKLE1 in human cleft palate and mouse development demonstrates rare and common variants involved in human malformations

por Yang, Tian, Jia, Zhonglin, Bryant-Pike, Whitney, Chandrasekhar, Anand, Murray, Jeffrey C, Fritzsch, Bernd, Bassuk, Alexander G
Publicado 2014

Association study in three different populations between the GPR88 gene and major psychoses

por Del Zompo, Maria, Deleuze, Jean-François, Chillotti, Caterina, Cousin, Emmanuelle, Niehaus, Dana, Ebstein, Richard P, Ardau, Raffaella, Macé, Sandrine, Warnich, Louise, Mujahed, Mustafa, Severino, Giovanni, Dib, Colette, Jordaan, Esme, Murad, Ibrahim, Soubigou, Stéphane, Koen, Liezl, Bannoura, Issam, Rocher, Corinne, Laurent, Claudine, Derock, Murielle, Faucon Biguet, Nicole, Mallet, Jacques, Meloni, Rolando
Publicado 2014

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis

por Amouri, Ahlem, Talmoudi, Faten, Messaoud, Olfa, d'Enghien, Catherine D, Rekaya, Mariem B, Allegui, Ines, Azaiez, Héla, Kefi, Rym, Abdelhak, Ahlem, Meseddi, Sondes H, Torjemane, Lamia, Ouederni, Monia, Mellouli, Fethi, Abid, Héla B, Aissaoui, Lamia, Bejaoui, Mohamed, Othmen, Tarek B, Lyonnet, Dominique S, Soulier, Jean, Hachicha, Mongia, Dellagi, Koussay, Abdelhak, Sonia, Fanconi, Tunisian
Publicado 2014

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience

por Žilina, Olga, Teek, Rita, Tammur, Pille, Kuuse, Kati, Yakoreva, Maria, Vaidla, Eve, Mölter-Väär, Triin, Reimand, Tiia, Kurg, Ants, Õunap, Katrin
Publicado 2014

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

por Spiegler, Stefanie, Najm, Juliane, Liu, Jian, Gkalympoudis, Stephanie, Schröder, Winnie, Borck, Guntram, Brockmann, Knut, Elbracht, Miriam, Fauth, Christine, Ferbert, Andreas, Freudenberg, Leonie, Grasshoff, Ute, Hellenbroich, Yorck, Henn, Wolfram, Hoffjan, Sabine, Hüning, Irina, Korenke, G Christoph, Kroisel, Peter M, Kunstmann, Erdmute, Mair, Martina, Munk-Schulenburg, Susanne, Nikoubashman, Omid, Pauli, Silke, Rudnik-Schöneborn, Sabine, Sudholt, Irene, Sure, Ulrich, Tinschert, Sigrid, Wiednig, Michaela, Zoll, Barbara, Ginsberg, Mark H, Felbor, Ute
Publicado 2014