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	3621.	De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. [electronic resource] by Fassio, Anna Esposito, Alessandro Kato, Mitsuhiro Saitsu, Hirotomo Mei, Davide Marini, Carla Conti, Valerio Nakashima, Mitsuko Okamoto, Nobuhiko Olmez Turker, Akgun Albuz, Burcu Semerci Gündüz, C Nur Yanagihara, Keiko Belmonte, Elisa Maragliano, Luca Ramsey, Keri Balak, Chris Siniard, Ashley Narayanan, Vinodh Ohba, Chihiro Shiina, Masaaki Ogata, Kazuhiro Matsumoto, Naomichi Benfenati, Fabio Guerrini, Renzo Producer: 20190708 In: Brain : a journal of neurology vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3622.	The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. [electronic resource] by Pinard, Amélie Guey, Stéphanie Guo, Dongchuan Cecchi, Alana C Kharas, Natasha Wallace, Stephanie Regalado, Ellen S Hostetler, Ellen M Sharrief, Anjail Z Bergametti, Françoise Kossorotoff, Manoelle Hervé, Dominique Kraemer, Markus Bamshad, Michael J Nickerson, Deborah A Smith, Edward R Tournier-Lasserve, Elisabeth Milewicz, Dianna M Producer: 20210111 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3623.	Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing. [electronic resource] by Akesson, Lauren S Eggers, Stefanie Love, Clare J Chong, Belinda Krzesinski, Emma I Brown, Natasha J Tan, Tiong Y Richmond, Christopher M Thorburn, David R Christodoulou, John Hunter, Matthew F Lunke, Sebastian Stark, Zornitza Producer: 20200717 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)
	3624.	High-throughput Sequencing of Subcutaneous Panniculitis-like T-Cell Lymphoma Reveals Candidate Pathogenic Mutations. [electronic resource] by Fernandez-Pol, Sebastian Costa, Helio A Steiner, David F Ma, Lisa Merker, Jason D Kim, Youn H Arber, Daniel A Kim, Jinah Producer: 20200720 In: Applied immunohistochemistry & molecular morphology : AIMM vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3625.	Identification of new cancer stem cell markers and signaling pathways in HER‑2‑positive breast cancer by transcriptome sequencing. [electronic resource] by Feng, Lu Huang, Shangke An, Gaili Wang, Guanying Gu, Shanzhi Zhao, Xinhan Producer: 20200311 In: International journal of oncology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3626.	Complete clinical remission of invasive Candida infection with CARD9 deficiency after G-CSF treatment. [electronic resource] by Du, Bailu Shen, Nan Hu, Jinfeng Tao, Yue Mo, Xi Cao, Qing Producer: 20201106 In: Comparative immunology, microbiology and infectious diseases vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3627.	Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort. [electronic resource] by Dong, Xinran Liu, Bo Yang, Lin Wang, Huijun Wu, Bingbing Liu, Renchao Chen, Hongbo Chen, Xiang Yu, Sha Chen, Bin Wang, Sujuan Xu, Xiu Zhou, Wenhao Lu, Yulan Producer: 20210610 In: Journal of medical genetics vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3628.	A Common Missense Variant in OMA1 Associated with the Prognosis of Heart Failure. [electronic resource] by Hu, Dong Li, Shiyang Hu, Senlin Sun, Yang Xiao, Lei Li, Chenze Wang, Jing Wang, Yan Ni, Li Zhao, Chunxia Wang, Dao Wen Producer: 20200929 In: Cardiovascular drugs and therapy vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3629.	Stem cell senescence drives age-attenuated induction of pituitary tumours in mouse models of paediatric craniopharyngioma. [electronic resource] by Gonzalez-Meljem, Jose Mario Haston, Scott Carreno, Gabriela Apps, John R Pozzi, Sara Stache, Christina Kaushal, Grace Virasami, Alex Panousopoulos, Leonidas Mousavy-Gharavy, Seyedeh Neda Guerrero, Ana Rashid, Mamunur Jani, Nital Goding, Colin R Jacques, Thomas S Adams, David J Gil, Jesus Andoniadou, Cynthia L Martinez-Barbera, Juan Pedro Producer: 20180918 In: Nature communications vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3630.	Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome. [electronic resource] by Ramaekers, V Th Segers, K Sequeira, J M Koenig, M Van Maldergem, L Bours, V Kornak, U Quadros, E V Producer: 20190404 In: Molecular genetics and metabolism vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3631.	Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. [electronic resource] by Waldrop, Megan A Gumienny, Felecia Boue, Daniel de Los Reyes, Emily Shell, Richard Weiss, Robert B Flanigan, Kevin M Producer: 20190520 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)
	3632.	Identification of novel [electronic resource] by Connelly, James A Mody, Rajen J Wu, Yi-Mi Robinson, Dan R Lonigro, Robert J Vats, Pankaj Rabban, Erica Anderson, Bailey Walkovich, Kelly Producer: 20190501 In: Cold Spring Harbor molecular case studies vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3633.	DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome. [electronic resource] by Juratli, Tareq A McCabe, Devin Nayyar, Naema Williams, Erik A Silverman, Ian M Tummala, Shilpa S Fink, Alexandria L Baig, Aymen Martinez-Lage, Maria Selig, Martin K Bihun, Ivanna V Shankar, Ganesh M Penson, Tristan Lastrapes, Matthew Daubner, Dirk Meinhardt, Matthias Hennig, Silke Kaplan, Alexander B Fujio, Shingo Kuter, Benjamin M Bertalan, Mia S Miller, Julie J Batten, Julie M Ely, Heather A Christiansen, Jason Baretton, Gustavo B Stemmer-Rachamimov, Anat O Santagata, Sandro Rivera, Miguel N Barker, Fred G Schackert, Gabriele Wakimoto, Hiroaki Iafrate, A John Carter, Scott L Cahill, Daniel P Brastianos, Priscilla K Producer: 20191008 In: Acta neuropathologica vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3634.	The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. [electronic resource] by Girisha, Katta M von Elsner, Leonie Neethukrishna, Kausthubham Muranjan, Mamta Shukla, Anju Bhavani, Gandham SriLakshmi Nishimura, Gen Kutsche, Kerstin Mortier, Geert 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)
	3635.	A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. [electronic resource] by Akçakaya, Nihan Hande Salman, Barış Görmez, Zeliha Tarkan Argüden, Yelda Çırakoğlu, Ayşe Çakmur, Raif Dönmez Çolakoğlu, Berril Hacıhanefioğlu, Seniha Özbek, Uğur Yapıcı, Zuhal Uğur İşeri, Sibel Aylin Producer: 20201002 In: Neuromolecular medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3636.	The Germline Variants rs61757955 and rs34988193 Are Predictive of Survival in Lower Grade Glioma Patients. [electronic resource] by Chatrath, Ajay Kiran, Manjari Kumar, Pankaj Ratan, Aakrosh Dutta, Anindya Producer: 20200428 In: Molecular cancer research : MCR vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3637.	Oncogenic Addiction to ERBB2 Signaling Predicts Response to Trastuzumab in Urothelial Cancer. [electronic resource] by Karass, Michael Bareja, Rohan Shelkey, Ethan Vlachostergios, Panagiotis J Robinson, Brian D Khani, Francesca Mosquera, Juan Miguel Scherr, Douglas S Sboner, Andrea Tagawa, Scott T Molina, Ana M Elemento, Olivier Nanus, David M Faltas, Bishoy M Producer: 20200716 In: Journal of the National Comprehensive Cancer Network : JNCCN vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3638.	Genetic Profiles Associated with Chemoresistance in Patient-Derived Xenograft Models of Ovarian Cancer. [electronic resource] by Li, Lan Ying Kim, Hee Jung Park, Sun Ae Lee, So Hyun Kim, Lee Kyung Lee, Jung Yun Kim, Sunghoon Kim, Young Tae Kim, Sang Wun Nam, Eun Ji Producer: 20191217 In: Cancer research and treatment vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3639.	Exome sequencing in patients with chronic central serous chorioretinopathy. [electronic resource] by Schellevis, Rosa L Breukink, Myrte B Gilissen, Christian Boon, Camiel J F Hoyng, Carel B de Jong, Eiko K den Hollander, Anneke I Producer: 20201009 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3640.	Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. [electronic resource] by Vivante, Asaf Chacham, Orna Staretz Shril, Shirlee Schreiber, Ruth Mane, Shrikant M Pode-Shakked, Ben Soliman, Neveen A Koneth, Irene Schiffer, Mario Anikster, Yair Hildebrandt, Friedhelm Producer: 20200706 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)

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