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	3441.	Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family. [electronic resource] by Sha, Yanwei Ma, Ding Zhang, Ning Wei, Xiaoli Liu, Wensheng Wang, Xiong Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3442.	Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree. [electronic resource] by Meng, Peiqi Zhao, Huaxiang Huang, Wenbin Zhang, Yunfan Zhong, Wenjie Zhang, Mengqi Jia, Peizeng Zhou, Zhibo Maimaitili, Gulibaha Chen, Feng Zhang, Jieni Lin, Jiuxiang Producer: 20200619 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3443.	Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes [electronic resource] by Torrico, Bàrbara Shaw, Alex D Mosca, Roberto Vivó-Luque, Norma Hervás, Amaia Fernàndez-Castillo, Noèlia Aloy, Patrick Bayés, Mònica Fullerton, Janice M Cormand, Bru Toma, Claudio Producer: 20200622 In: Journal of psychiatry & neuroscience : JPN vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3444.	Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1. [electronic resource] by El-Bazzal, Lara Rihan, Khalil Bernard-Marissal, Nathalie Castro, Christel Chouery-Khoury, Eliane Desvignes, Jean-Pierre Atkinson, Alexandre Bertaux, Karine Koussa, Salam Lévy, Nicolas Bartoli, Marc Mégarbané, André Jabbour, Rosette Delague, Valérie Producer: 20200312 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3445.	Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer. [electronic resource] by Jiao, Jiao Sagnelli, Matthew Shi, Bei Fang, Yuanyuan Shen, Ziqi Tang, Tianyu Dong, Bingying Li, Da Wang, Xiuxia Producer: 20190708 In: BMC endocrine disorders vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3446.	Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. [electronic resource] by Gerth-Kahlert, Christina Koller, Samuel Hanson, James V M Baehr, Luzy Tiwari, Amit Kivrak-Pfiffner, Fatma Bahr, Angela Berger, Wolfgang Producer: 20191213 In: Investigative ophthalmology & visual science vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3447.	Screening of reference genes and quantitative real-time PCR detection and verification in Dermatophagoides farinae under temperature stress. [electronic resource] by Niu, DongLing Zhao, YaE Gong, XiaoJuan Zhang, WanYu Yang, Rui Hu, Li Xiong, GuoDian Ding, ShuQin Producer: 20191105 In: Experimental parasitology vol. 206 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3448.	Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. [electronic resource] by Estrada-Cuzcano, Alejandro Etard, Christelle Delvallée, Clarisse Stoetzel, Corinne Schaefer, Elise Scheidecker, Sophie Geoffroy, Véronique Schneider, Aline Studer, Fouzia Mattioli, Francesca Chennen, Kirsley Sigaudy, Sabine Plassard, Damien Poch, Olivier Piton, Amélie Strahle, Uwe Muller, Jean Dollfus, Hélène Producer: 20210519 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3449.	Characterization of intellectual disability and autism comorbidity through gene panel sequencing. [electronic resource] by Aspromonte, Maria C Bellini, Mariagrazia Gasparini, Alessandra Carraro, Marco Bettella, Elisa Polli, Roberta Cesca, Federica Bigoni, Stefania Boni, Stefania Carlet, Ombretta Negrin, Susanna Mammi, Isabella Milani, Donatella Peron, Angela Sartori, Stefano Toldo, Irene Soli, Fiorenza Turolla, Licia Stanzial, Franco Benedicenti, Francesco Marino-Buslje, Cristina Tosatto, Silvio C E Murgia, Alessandra Leonardi, Emanuela Producer: 20200313 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3450.	A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. [electronic resource] by Zhou, Yu Li, Shujin Huang, Lulin Yang, Yeming Zhang, Lin Yang, Mu Liu, Wenjing Ramasamy, Kim Jiang, Zhilin Sundaresan, Periasamy Zhu, Xianjun Yang, Zhenglin Producer: 20190312 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3451.	Retroperitoneal fibrosis as extramedullary hematopoiesis of a chronic myelomonocytic leukemia. [electronic resource] by Ricard, Laure Abisror, Noémie Droin, Nathalie Selimoglu-Buet, Dorothée Martin, Antoine Soussan, Michael Willekens, Christophe Deligny, Christophe Fain, Olivier Solary, Eric Mekinian, Arsène Producer: 20190606 In: Leukemia & lymphoma vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3452.	Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. [electronic resource] by Biswas, Pooja Naeem, Muhammad Asif Ali, Muhammad Hassaan Assir, Muhammad Zaman Khan, Shaheen N Riazuddin, Sheikh Hejtmancik, J Fielding Riazuddin, S Amer Ayyagari, Radha Producer: 20190506 In: Advances in experimental medicine and biology vol. 1074 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3453.	Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. [electronic resource] by Prins, Bram P Mead, Timothy J Brody, Jennifer A Sveinbjornsson, Gardar Ntalla, Ioanna Bihlmeyer, Nathan A van den Berg, Marten Bork-Jensen, Jette Cappellani, Stefania Van Duijvenboden, Stefan Klena, Nikolai T Gabriel, George C Liu, Xiaoqin Gulec, Cagri Grarup, Niels Haessler, Jeffrey Hall, Leanne M Iorio, Annamaria Isaacs, Aaron Li-Gao, Ruifang Lin, Honghuang Liu, Ching-Ti Lyytikäinen, Leo-Pekka Marten, Jonathan Mei, Hao Müller-Nurasyid, Martina Orini, Michele Padmanabhan, Sandosh Radmanesh, Farid Ramirez, Julia Robino, Antonietta Schwartz, Molly van Setten, Jessica Smith, Albert V Verweij, Niek Warren, Helen R Weiss, Stefan Alonso, Alvaro Arnar, David O Bots, Michiel L de Boer, Rudolf A Dominiczak, Anna F Eijgelsheim, Mark Ellinor, Patrick T Guo, Xiuqing Felix, Stephan B Harris, Tamara B Hayward, Caroline Heckbert, Susan R Huang, Paul L Jukema, J W Kähönen, Mika Kors, Jan A Lambiase, Pier D Launer, Lenore J Li, Man Linneberg, Allan Nelson, Christopher P Pedersen, Oluf Perez, Marco Peters, Annette Polasek, Ozren Psaty, Bruce M Raitakari, Olli T Rice, Kenneth M Rotter, Jerome I Sinner, Moritz F Soliman, Elsayed Z Spector, Tim D Strauch, Konstantin Thorsteinsdottir, Unnur Tinker, Andrew Trompet, Stella Uitterlinden, André Vaartjes, Ilonca van der Meer, Peter Völker, Uwe Völzke, Henry Waldenberger, Melanie Wilson, James G Xie, Zhijun Asselbergs, Folkert W Dörr, Marcus van Duijn, Cornelia M Gasparini, Paolo Gudbjartsson, Daniel F Gudnason, Vilmundur Hansen, Torben Kääb, Stefan Kanters, Jørgen K Kooperberg, Charles Lehtimäki, Terho Lin, Henry J Lubitz, Steven A Mook-Kanamori, Dennis O Conti, Francesco J Newton-Cheh, Christopher H Rosand, Jonathan Rudan, Igor Samani, Nilesh J Sinagra, Gianfranco Smith, Blair H Holm, Hilma Stricker, Bruno H Ulivi, Sheila Sotoodehnia, Nona Apte, Suneel S van der Harst, Pim Stefansson, Kari Munroe, Patricia B Arking, Dan E Lo, Cecilia W Jamshidi, Yalda Producer: 20181119 In: Genome biology vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3454.	An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Answers. [electronic resource] by Gökceoğlu, Arife Uslu Taşar, Medine Ayşin Yalaki, Zahide Güneş, Abdullah Bakır, Abdullatif Producer: 20200402 In: Pediatric nephrology (Berlin, Germany) vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3455.	Identification of an Actionable Mutation of KIT in a Case of Extraskeletal Myxoid Chondrosarcoma. [electronic resource] by Urbini, Milena Indio, Valentina Astolfi, Annalisa Tarantino, Giuseppe Renne, Salvatore Lorenzo Pilotti, Silvana Dei Tos, Angelo Paolo Maestro, Roberta Collini, Paola Nannini, Margherita Saponara, Maristella Murrone, Ludovica Dagrada, Gian Paolo Colombo, Chiara Gronchi, Alessandro Pession, Andrea Casali, Paolo Giovanni Stacchiotti, Silvia Pantaleo, Maria Abbondanza Producer: 20181011 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3456.	Outcome-Related Signatures Identified by Whole Transcriptome Sequencing of Resectable Stage III/IV Melanoma Evaluated after Starting Hu14.18-IL2. [electronic resource] by Yang, Richard K Kuznetsov, Igor B Ranheim, Erik A Wei, Jun S Sindiri, Sivasish Gryder, Berkley E Gangalapudi, Vineela Song, Young K Patel, Viharkumar Hank, Jacquelyn A Zuleger, Cindy Erbe, Amy K Morris, Zachary S Quale, Renae Kim, KyungMann Albertini, Mark R Khan, Javed Sondel, Paul M Producer: 20210914 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3457.	Neurological Involvement in Glycogen Storage Disease Type IXa due to [electronic resource] by Smith, Chelsea Dicaire, Marie-Josée Brais, Bernard La Piana, Roberta Producer: 20210607 In: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3458.	Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. [electronic resource] by Ascari, Giulia Peelman, Frank Farinelli, Pietro Rosseel, Toon Lambrechts, Nina Wunderlich, Kirsten A Wagner, Matias Nikopoulos, Konstantinos Martens, Pernille Balikova, Irina Derycke, Lara Holtappels, Gabriële Krysko, Olga Van Laethem, Thalia De Jaegere, Sarah Guillemyn, Brecht De Rycke, Riet De Bleecker, Jan Creytens, David Van Dorpe, Jo Gerris, Jan Bachert, Claus Neuhofer, Christiane Walraedt, Sophie Bischoff, Almut Pedersen, Lotte B Klopstock, Thomas Rivolta, Carlo Leroy, Bart P De Baere, Elfride Coppieters, Frauke Producer: 20210721 In: Human mutation vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3459.	Evolution of a prenatal genetic clinic-A 10-year cohort study. [electronic resource] by Mone, Fionnuala O'Connor, Clare Hamilton, Susan Quinlan-Jones, Elizabeth Allen, Stephanie Marton, Tamas Williams, Denise Kilby, Mark D Producer: 20210611 In: Prenatal diagnosis vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3460.	Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia. [electronic resource] by Qiu, Yu Cai, Hao Cui, Lijia Liu, Ying-Xian Wang, Yi-Ning Li, Jian Cao, Xin-Xin Producer: 20200204 In: Annals of hematology vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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