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	2721.	A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family. [electronic resource] by Li, Fucheng Liao, Can Li, Ru Zhang, Yongling Jing, Xiangyi Li, Yan Deng, Weiping Producer: 20200527 In: The Journal of dermatology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2722.	Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease. [electronic resource] by Guo, Xiaopeng Gao, Lu Hong, Xiafei Guo, Dan Di, Wenyu Wang, Xiaoman Xu, Zhiqin Xing, Bing Producer: 20200526 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)
	2723.	Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. [electronic resource] by Sangiorgi, Eugenio Azzarà, Alessia Molinario, Clelia Pietrobono, Roberta Rigante, Donato Verrecchia, Elena Sicignano, Ludovico Luca Genuardi, Maurizio Gurrieri, Fiorella Manna, Raffaele Producer: 20200612 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2724.	Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. [electronic resource] by Berkun, Lina Slae, Mordechai Mor-Shaked, Hagar Koplewitz, Benjamin Eventov-Friedman, Smadar Harel, Tamar Producer: 20200817 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)
	2725.	Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. [electronic resource] by Piro-Mégy, Camille Sarzi, Emmanuelle Tarrés-Solé, Aleix Péquignot, Marie Hensen, Fenna Quilès, Mélanie Manes, Gaël Chakraborty, Arka Sénéchal, Audrey Bocquet, Béatrice Cazevieille, Chantal Roubertie, Agathe Müller, Agnès Charif, Majida Goudenège, David Lenaers, Guy Wilhelm, Helmut Kellner, Ulrich Weisschuh, Nicole Wissinger, Bernd Zanlonghi, Xavier Hamel, Christian Spelbrink, Johannes N Sola, Maria Delettre, Cécile Producer: 20200724 In: The Journal of clinical investigation vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2726.	Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome. [electronic resource] by Landini, Samuela Mazzinghi, Benedetta Becherucci, Francesca Allinovi, Marco Provenzano, Aldesia Palazzo, Viviana Ravaglia, Fiammetta Artuso, Rosangela Bosi, Emanuele Stagi, Stefano Sansavini, Giulia Guzzi, Francesco Cirillo, Luigi Vaglio, Augusto Murer, Luisa Peruzzi, Licia Pasini, Andrea Materassi, Marco Roperto, Rosa Maria Anders, Hans-Joachim Rotondi, Mario Giglio, Sabrina Rita Romagnani, Paola Producer: 20210531 In: Clinical journal of the American Society of Nephrology : CJASN vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2727.	High Molecular Diagnosis Rate in Undermasculinized Males with Differences in Sex Development Using a Stepwise Approach. [electronic resource] by Jacobson, Jill D Willig, Laurel K Gatti, John Strickland, Julie Egan, Anna Saunders, Carol Farrow, Emily Heckert, Leslie L Producer: 20210104 In: Endocrinology vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2728.	Transcriptome-wide-scale-predicted dsRNAs potentially involved in RNA homoeostasis are remarkably excluded from genes with no/very low expression in all developmental stages. [electronic resource] by Pasquier, Claude Agnel, Sandra Robichon, Alain Producer: 20210426 In: RNA biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2729.	Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology? [electronic resource] by Laugwitz, Lucia Buchert, Rebecca Groeschel, Samuel Riess, Angelika Grimmel, Mona Beck-Wödl, Stefanie Sturm, Marc Gohla, Georg Döbler-Neumann, Marion Krägeloh-Mann, Ingeborg Haack, Tobias B Producer: 20210104 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)
	2730.	Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient. [electronic resource] by Carmona, Susana da Luz Freitas, Maria Froufe, Hugo Simões, Maria José Sampaio, Maria João Silva, Eduardo D Egas, Conceição Producer: 20180621 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2731.	Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer. [electronic resource] by Ashktorab, Hassan Mokarram, Pooneh Azimi, Hamed Olumi, Hasti Varma, Sudhir Nickerson, Michael L Brim, Hassan Producer: 20180226 In: Oncotarget vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2732.	A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function. [electronic resource] by Tsai, P-C Tsai, Y-S Soong, B-W Huang, Y-H Wu, H-T Chen, Y-H Lin, K-P Liao, Y-C Lee, Y-C Producer: 20180418 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2733.	Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. [electronic resource] by Zhao, Jin James Halvardson, Jonatan Knaus, Alexej Georgii-Hemming, Patrik Baeck, Peter Krawitz, Peter M Thuresson, Ann-Charlotte Feuk, Lars Producer: 20180510 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2734.	The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis. [electronic resource] by Shamriz, O Shaag, A Yaacov, B NaserEddin, A Weintraub, M Elpeleg, O Stepensky, P Producer: 20180316 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2735.	A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. [electronic resource] by Fukuda, Hiroyuki Imagawa, Eri Hamanaka, Kohei Fujita, Atsushi Mitsuhashi, Satomi Miyatake, Satoko Mizuguchi, Takeshi Takata, Atsushi Miyake, Noriko Kramer, Uri Matsumoto, Naomichi Fattal-Valevski, Aviva Producer: 20180918 In: Journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2736.	Identification of autism-related [electronic resource] by Wen, Zhu Cheng, Tian-Lin Li, Gai-Zhi Sun, Shi-Bang Yu, Shun-Ying Zhang, Yi Du, Ya-Song Qiu, Zilong Producer: 20180530 In: Molecular autism vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2737.	Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation. [electronic resource] by Pelzer, Nadine Haan, Joost Stam, Anine H Vijfhuizen, Lisanne S Koelewijn, Stephany C Smagge, Amber de Vries, Boukje Ferrari, Michel D van den Maagdenberg, Arn M J M Terwindt, Gisela M Producer: 20190729 In: Neurology vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2738.	MultiDimensional ClinOmics for Precision Therapy of Children and Adolescent Young Adults with Relapsed and Refractory Cancer: A Report from the Center for Cancer Research. [electronic resource] by Chang, Wendy Brohl, Andrew S Patidar, Rajesh Sindiri, Sivasish Shern, Jack F Wei, Jun S Song, Young K Yohe, Marielle E Gryder, Berkley Zhang, Shile Calzone, Kathleen A Shivaprasad, Nityashree Wen, Xinyu Badgett, Thomas C Miettinen, Markku Hartman, Kip R League-Pascual, James C Trahair, Toby N Widemann, Brigitte C Merchant, Melinda S Kaplan, Rosandra N Lin, Jimmy C Khan, Javed Producer: 20180112 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2739.	A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family. [electronic resource] by Huang, Yuan-Tao Zhang, Li-Hua Li, Mei-Fang Cheng, Lin Zou, Guo-Ying Zhou, Hong-Hao Producer: 20200724 In: Brain research bulletin vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2740.	Comprehensive Genetic Results for Primary Immunodeficiency Disorders in a Highly Consanguineous Population. [electronic resource] by Al-Herz, Waleed Chou, Janet Delmonte, Ottavia Maria Massaad, Michel J Bainter, Wayne Castagnoli, Riccardo Klein, Christoph Bryceson, Yenan T Geha, Raif S Notarangelo, Luigi D Producer: 20191017 In: Frontiers in immunology vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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