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	2801.	Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. [electronic resource] by Kominami, Azusa Ueno, Shinji Kominami, Taro Nakanishi, Ayami Ito, Yasuki Fujinami, Kaoru Tsunoda, Kazushige Hayashi, Takaaki Kikuchi, Sachiko Kameya, Shuhei Iwata, Takeshi Terasaki, Hiroko Producer: 20190311 In: Ophthalmic genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2802.	INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. [electronic resource] by Yousaf, S Sheikh, S A Riazuddin, S Waryah, A M Ahmed, Z M Producer: 20190911 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2803.	A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. [electronic resource] by Xia, Hong Hu, Pengzhi Yuan, Lamei Xiong, Wei Xu, Hongbo Yi, Junhui Yang, Zhijian Deng, Xiong Guo, Yi Deng, Hao Producer: 20180514 In: Molecular medicine reports vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2804.	Whole-exome sequencing demonstrates recurrent somatic copy number alterations and sporadic mutations in specialized stromal tumors of the prostate. [electronic resource] by Pan, Chin-Chen Tsuzuki, Toyonori Morii, Eiichi Fushimi, Hiroaki Chen, Paul Chih-Hsueh Epstein, Jonathan I Producer: 20190409 In: Human pathology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2805.	Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders. [electronic resource] by Manzoor, Humera Brüggemann, Norbert Hussain, Hafiz Muhammad Jafar Bäumer, Tobias Hinrichs, Frauke Wajid, Muhammad Münchau, Alexander Naz, Sadaf Lohmann, Katja Producer: 20190621 In: Parkinsonism & related disorders vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2806.	Identification of 13 novel susceptibility loci for early-onset myocardial infarction, hypertension, or chronic kidney disease. [electronic resource] by Yamada, Yoshiji Kato, Kimihiko Oguri, Mitsutoshi Horibe, Hideki Fujimaki, Tetsuo Yasukochi, Yoshiki Takeuchi, Ichiro Sakuma, Jun Producer: 20190121 In: International journal of molecular medicine vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2807.	Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. [electronic resource] by Bupp, Caleb P Schultz, Chad R Uhl, Katie L Rajasekaran, Surender Bachmann, André S Producer: 20191029 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)
	2808.	Identification of the potential molecular mechanism and driving mutations in the pathogenesis of familial intestinal gastric cancer by whole exome sequencing. [electronic resource] by Chen, Haixiang Wang, Juan Zhuang, Yi Wu, Hao Producer: 20181115 In: Oncology reports vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2809.	Exome sequencing in large, multiplex bipolar disorder families from Cuba. [electronic resource] by Maaser, Anna Forstner, Andreas J Strohmaier, Jana Hecker, Julian Ludwig, Kerstin U Sivalingam, Sugirthan Streit, Fabian Degenhardt, Franziska Witt, Stephanie H Reinbold, Céline S Koller, Anna C Raff, Ruth Heilmann-Heimbach, Stefanie Fischer, Sascha B Herms, Stefan Hoffmann, Per Thiele, Holger Nürnberg, Peter Löhlein Fier, Heide Orozco-Díaz, Guillermo Carmenate-Naranjo, Deinys Proenza-Barzaga, Niurka Auburger, Georg W J Andlauer, Till F M Cichon, Sven Marcheco-Teruel, Beatriz Mors, Ole Rietschel, Marcella Nöthen, Markus M Producer: 20190327 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2810.	Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis. [electronic resource] by Fan, Liang-Liang Liu, Ji-Shi Huang, Hao Du, Ran Xiang, Rong Producer: 20200406 In: The journal of gene medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2811.	PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases. [electronic resource] by Bownass, Lucy Abbs, Stephen Armstrong, Ruth Baujat, Genevieve Behzadi, Gry Berentsen, Ragnhild Drage Burren, Christine Calder, Alistair Cormier-Daire, Valérie Newbury-Ecob, Ruth Foulds, Nicola Juliusson, Petur B Kant, Sarina G Lefroy, Henrietta Mehta, Sarju G Merckoll, Else Michot, Caroline Monsell, Fergal Offiah, Amaka C Richards, Allan Rosendahl, Karen Rustad, Cecilie F Shears, Deborah Tveten, Kristian Wellesley, Diana Wordsworth, Paul Smithson, Sarah 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)
	2812.	Defining the genetic and evolutionary architecture of alternative splicing in response to infection. [electronic resource] by Rotival, Maxime Quach, Hélène Quintana-Murci, Lluis Producer: 20190508 In: Nature communications vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2813.	Characterization of glycine-N-acyltransferase like 1 (GLYATL1) in prostate cancer. [electronic resource] by Eich, Marie-Lisa Chandrashekar, Darshan Shimoga Rodriguez Pen A, Maria Del Carmen Robinson, Alyncia D Siddiqui, Javed Daignault-Newton, Stephanie Chakravarthi, Balabhadrapatruni V S K Kunju, Lakshmi Priya Netto, George J Varambally, Sooryanarayana Producer: 20200218 In: The Prostate vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2814.	Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. [electronic resource] by Herlin, Morten K Le, Vang Q Højland, Allan T Ernst, Anja Okkels, Henrik Petersen, Astrid C Petersen, Michael B Pedersen, Inge S Producer: 20200909 In: Human reproduction (Oxford, England) vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2815.	Immunodeficiency and EBV-induced lymphoproliferation caused by 4-1BB deficiency. [electronic resource] by Alosaimi, Mohammed F Hoenig, Manfred Jaber, Faris Platt, Craig D Jones, Jennifer Wallace, Jacqueline Debatin, Klaus-Michael Schulz, Ansgar Jacobsen, Eva Möller, Peter Shamseldin, Hanan E Abdulwahab, Ferdous Ibrahim, Niema Alardati, Hosam Almuhizi, Faisal Abosoudah, Ibraheem F Basha, Talal A Chou, Janet Alkuraya, Fowzan S Geha, Raif S Producer: 20200519 In: The Journal of allergy and clinical immunology vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2816.	CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. [electronic resource] by Konrad, Enrico D H Nardini, Niels Caliebe, Almuth Nagel, Inga Young, Dana Horvath, Gabriella Santoro, Stephanie L Shuss, Christine Ziegler, Alban Bonneau, Dominique Kempers, Marlies Pfundt, Rolph Legius, Eric Bouman, Arjan Stuurman, Kyra E Õunap, Katrin Pajusalu, Sander Wojcik, Monica H Vasileiou, Georgia Le Guyader, Gwenaël Schnelle, Hege M Berland, Siren Zonneveld-Huijssoon, Evelien Kersten, Simone Gupta, Aditi Blackburn, Patrick R Ellingson, Marissa S Ferber, Matthew J Dhamija, Radhika Klee, Eric W McEntagart, Meriel Lichtenbelt, Klaske D Kenney, Amy Vergano, Samantha A Abou Jamra, Rami Platzer, Konrad Ella Pierpont, Mary Khattar, Divya Hopkin, Robert J Martin, Richard J Jongmans, Marjolijn C J Chang, Vivian Y Martinez-Agosto, Julian A Kuismin, Outi Kurki, Mitja I Pietiläinen, Olli Palotie, Aarno Maarup, Timothy J Johnson, Diana S Venborg Pedersen, Katja Laulund, Lone W Lynch, Sally A Blyth, Moira Prescott, Katrina Canham, Natalie Ibitoye, Rita Brilstra, Eva H Shinawi, Marwan Fassi, Emily Sticht, Heinrich Gregor, Anne Van Esch, Hilde Zweier, Christiane Producer: 20200501 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2817.	Hahyoungchilella caricis gen. nov., sp. nov., isolated from a rhizosphere mudflat of a halophyte (Carex scabrifolia), transfer of Thioclava arenosa Thongphrom et al. 2017 to Pseudothioclava as Pseudothioclava arenosa gen. nov., comb. nov. and proposal of Thioclava electrotropha Chang et al. 2018 as a later heterosynonym of Thioclava sediminum. [electronic resource] by Kim, Young-Ju Lee, Soon Dong Producer: 20200127 In: Journal of microbiology (Seoul, Korea) vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2818.	Human genetic variation in GLS2 is associated with development of complicated Staphylococcus aureus bacteremia. [electronic resource] by Scott, William K Medie, Felix Mba Ruffin, Felicia Sharma-Kuinkel, Batu K Cyr, Derek D Guo, Shengru Dykxhoorn, Derek M Skov, Robert L Bruun, Niels E Dahl, Anders Lerche, Christian J Petersen, Andreas Larsen, Anders Rhod Lauridsen, Trine Kiilerich Johansen, Helle Krogh Ullum, Henrik Sørensen, Erik Hassager, Christian Bundgaard, Henning Schønheyder, Henrik C Torp-Pedersen, Christian Østergaard, Louise Bruun Arpi, Magnus Rosenvinge, Flemming Erikstrup, Lise T Chehri, Mahtab Søgaard, Peter Andersen, Paal S Fowler, Vance G Producer: 20190215 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2819.	Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. [electronic resource] by Inui, Takehiko Iwama, Kazuhiro Miyabayashi, Takuya Sato, Ryo Okubo, Yukimune Endo, Wakaba Togashi, Noriko Kakisaka, Yosuke Kikuchi, Atsuo Mizuguchi, Takeshi Kure, Shigeo Matsumoto, Naomichi Haginoya, Kazuhiro Producer: 20201119 In: European journal of medical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2820.	Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. [electronic resource] by Abolhassani, Hassan Aghamohammadi, Asghar Fang, Mingyan Rezaei, Nima Jiang, Chongyi Liu, Xiao Pan-Hammarström, Qiang Hammarström, Lennart Producer: 20190312 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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