Your search returned 4080 results.

Results
	2981.	Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11). [electronic resource] by Dadi, Harjit Jones, Tyler A Merico, Daniele Sharfe, Nigel Ovadia, Adi Schejter, Yael Reid, Brenda Sun, Mark Vong, Linda Atkinson, Adelle Lavi, Sasson Pomerantz, Joel L Roifman, Chaim M Producer: 20190730 In: The Journal of allergy and clinical immunology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2982.	Clinical features of LONP1-related infantile cataract. [electronic resource] by Khan, Arif O AlBakri, Amani Producer: 20190722 In: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2983.	BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. [electronic resource] by Soblet, Julie Dimov, Ivan Graf von Kalckreuth, Clemens Cano-Chervel, Julie Baijot, Simon Pelc, Karin Sottiaux, Martine Vilain, Catheline Smits, Guillaume Deconinck, Nicolas Producer: 20180621 In: American journal of medical genetics. Part A vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2984.	A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators. [electronic resource] by Shin, Dong Hoon Jung, Jinsei Koh, Young Ik Rim, John Hoon Lee, Joon Suk Choi, Hye Ji Joo, Sun Young Yu, Seyoung Cha, Do Hyeon Lee, Seung Yeon Lee, Ji Hyun Lee, Min Goo Choi, Jae Young Gee, Heon Yung Producer: 20200323 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2985.	Myasthenic congenital myopathy from recessive mutations at a single residue in Na [electronic resource] by Elia, Nathaniel Palmio, Johanna Castañeda, Marisol Sampedro Shieh, Perry B Quinonez, Marbella Suominen, Tiina Hanna, Michael G Männikkö, Roope Udd, Bjarne Cannon, Stephen C Producer: 20191212 In: Neurology vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2986.	Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. [electronic resource] by Iwama, Kazuhiro Mizuguchi, Takeshi Takeshita, Eri Nakagawa, Eiji Okazaki, Tetsuya Nomura, Yoshiko Iijima, Yoshitaka Kajiura, Ichiro Sugai, Kenji Saito, Takashi Sasaki, Masayuki Yuge, Kotaro Saikusa, Tomoko Okamoto, Nobuhiko Takahashi, Satoru Amamoto, Masano Tomita, Ichiro Kumada, Satoko Anzai, Yuki Hoshino, Kyoko Fattal-Valevski, Aviva Shiroma, Naohide Ohfu, Masaharu Moroto, Masaharu Tanda, Koichi Nakagawa, Tomoko Sakakibara, Takafumi Nabatame, Shin Matsuo, Muneaki Yamamoto, Akiko Yukishita, Shoko Inoue, Ken Waga, Chikako Nakamura, Yoko Watanabe, Shoko Ohba, Chihiro Sengoku, Toru Fujita, Atsushi Mitsuhashi, Satomi Miyatake, Satoko Takata, Atsushi Miyake, Noriko Ogata, Kazuhiro Ito, Shuichi Saitsu, Hirotomo Matsuishi, Toyojiro Goto, Yu-Ichi Matsumoto, Naomichi Producer: 20200604 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2987.	Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. [electronic resource] by Zhang, Nian Wang, Juan Liu, Shuting Liu, Mugen Jiang, Fagang Producer: 20190325 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2988.	Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. [electronic resource] by Cox, Liza L Cox, Timothy C Moreno Uribe, Lina M Zhu, Ying Richter, Chika T Nidey, Nichole Standley, Jennifer M Deng, Mei Blue, Elizabeth Chong, Jessica X Yang, Yueqin Carstens, Russ P Anand, Deepti Lachke, Salil A Smith, Joshua D Dorschner, Michael O Bedell, Bruce Kirk, Edwin Hing, Anne V Venselaar, Hanka Valencia-Ramirez, Luz C Bamshad, Michael J Glass, Ian A Cooper, Jonathan A Haan, Eric Nickerson, Deborah A van Bokhoven, Hans Zhou, Huiqing Krahn, Katy N Buckley, Michael F Murray, Jeffrey C Lidral, Andrew C Roscioli, Tony Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2989.	USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. [electronic resource] by Barca, Emanuele Ganetzky, Rebecca D Potluri, Prasanth Juanola-Falgarona, Marti Gai, Xiaowu Li, Dong Jalas, Chaim Hirsch, Yoel Emmanuele, Valentina Tadesse, Saba Ziosi, Marcello Akman, Hasan O Chung, Wendy K Tanji, Kurenai McCormick, Elizabeth M Place, Emily Consugar, Mark Pierce, Eric A Hakonarson, Hakon Wallace, Douglas C Hirano, Michio Falk, Marni J Producer: 20190328 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2990.	Rare germline variants in DNA repair genes and the angiogenesis pathway predispose prostate cancer patients to develop metastatic disease. [electronic resource] by Mijuskovic, Martina Saunders, Edward J Leongamornlert, Daniel A Wakerell, Sarah Whitmore, Ian Dadaev, Tokhir Cieza-Borrella, Clara Govindasami, Koveela Brook, Mark N Haiman, Christopher A Conti, David V Eeles, Rosalind A Kote-Jarai, Zsofia Producer: 20190815 In: British journal of cancer vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2991.	Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients. [electronic resource] by Nguyen, Thong T Poornachandra, B Verma, Anshuman Mehta, Ruchir A Phalke, Sameer Battu, Rajani Ramprasad, Vedam L Peterson, Andrew S Ghosh, Arkasubhra Seshagiri, Somasekar Producer: 20191028 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2992.	Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing. [electronic resource] by Lu, Hsiao-Mei Li, Shuwei Black, Mary Helen Lee, Shela Hoiness, Robert Wu, Sitao Mu, Wenbo Huether, Robert Chen, Jefferey Sridhar, Srijani Tian, Yuan McFarland, Rachel Dolinsky, Jill Tippin Davis, Brigette Mexal, Sharon Dunlop, Charles Elliott, Aaron Producer: 20191219 In: JAMA oncology vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2993.	Novel [electronic resource] by Böhm, Johann Malfatti, Edoardo Oates, Emily Jones, Kristi Brochier, Guy Boland, Anne Deleuze, Jean-François Romero, Norma Beatriz Laporte, Jocelyn Producer: 20200611 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2994.	Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report. [electronic resource] by Grzechocińska, Barbara Warzecha, Damian Wypchło, Maria Ploski, Rafal Wielgoś, Mirosław 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)
	2995.	Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. [electronic resource] by Kraemer, Dennis Azzarello-Burri, Silvia Steindl, Katharina Boonsawat, Paranchai Zweier, Markus Dedes, Konstantin J Joset, Pascal Fink, Daniel Rauch, Anita Producer: 20200729 In: Swiss medical weekly vol. 149 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2996.	Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. [electronic resource] by Codina-Sola, Marta Costa-Roger, Mar Pérez-García, Debora Flores, Raquel Palacios-Verdú, Maria Gabriela Cusco, Ivon Pérez-Jurado, Luis Alberto Producer: 20200629 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2997.	Using Nanopore Whole-Transcriptome Sequencing for Human Leukocyte Antigen Genotyping and Correlating Donor Human Leukocyte Antigen Expression with Flow Cytometric Crossmatch Results. [electronic resource] by Montgomery, Maureen C Liu, Chang Petraroia, Rosanne Weimer, Eric T Producer: 20210510 In: The Journal of molecular diagnostics : JMD vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2998.	Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. [electronic resource] by Zhang, Rui Chen, Shaoyun Han, Peng Chen, Fangfang Kuang, Shan Meng, Zhuo Liu, Junnian Sun, Ruliang Wang, Zhiwei He, Xiaohong Li, Yong Guan, Yuanning Yue, Zhengfang Li, Chen Kumar Dey, Subrata Zhu, Yuanfang Banerjee, Santasree Producer: 20210422 In: Journal of cellular and molecular medicine vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2999.	The utility of exome sequencing for fetal pleural effusions. [electronic resource] by Jelin, Angie C Sobreira, Nara Wohler, Elizabeth Solomon, Benjamin Sparks, Teresa Sagaser, Katelynn G Forster, Katherine R Miller, Jena Witmer, P Dane Hamosh, Ada Valle, David Blakemore, Karin 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)
	3000.	GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. [electronic resource] by Škorić-Milosavljević, Doris Tjong, Fleur V Y Barc, Julien Backx, Ad P C M Clur, Sally-Ann B van Spaendonck-Zwarts, Karin Oostra, Roelof-Jan Lahrouchi, Najim Beekman, Leander Bökenkamp, Regina Barge-Schaapveld, Daniela Q C M Mulder, Barbara J Lodder, Elisabeth M Bezzina, Connie R Postma, Alex V Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 4080 results.