Your search returned 4080 results.

Results
	3261.	A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant. [electronic resource] by Kurolap, Alina Eshach Adiv, Orly Konnikova, Liza Werner, Lael Gonzaga-Jauregui, Claudia Steinberg, Maya Mitsialis, Vanessa Mory, Adi Nunberg, Moran Y Wall, Sarah Shaoul, Ron Overton, John D Shuldiner, Alan R Zohar, Yaniv Paperna, Tamar Snapper, Scott B Shouval, Dror S Baris Feldman, Hagit Producer: 20200619 In: Journal of clinical immunology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3262.	Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. [electronic resource] by Sommerville, Ewen W Dalla Rosa, Ilaria Rosenberg, Masha M Bruni, Francesco Thompson, Kyle Rocha, Mariana Blakely, Emma L He, Langping Falkous, Gavin Schaefer, Andrew M Yu-Wai-Man, Patrick Chinnery, Patrick F Hedstrom, Lizbeth Spinazzola, Antonella Taylor, Robert W Gorman, Gráinne S Producer: 20210208 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3263.	Comparative transcriptome analyses of genes involved in sulforaphane metabolism at different treatment in Chinese kale using full-length transcriptome sequencing. [electronic resource] by Wu, Qiuyun Wang, Junwei Mao, Shuxiang Xu, Haoran Wu, Qi Liang, Mantian Yuan, Yiming Liu, Mingyue Huang, Ke Producer: 20190904 In: BMC genomics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3264.	Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus. [electronic resource] by Al-Jezawi, Nesreen K Al-Shamsi, Aisha M Suleiman, Jehan Ben-Salem, Salma John, Anne Vijayan, Ranjit Ali, Bassam R Al-Gazali, Lihadh Producer: 20181213 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3265.	A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. [electronic resource] by Szot, Justin O Cuny, Hartmut Blue, Gillian M Humphreys, David T Ip, Eddie Harrison, Katrina Sholler, Gary F Giannoulatou, Eleni Leo, Paul Duncan, Emma L Sparrow, Duncan B Ho, Joshua W K Graham, Robert M Pachter, Nicholas Chapman, Gavin Winlaw, David S Dunwoodie, Sally L Producer: 20190307 In: Circulation. Genomic and precision medicine vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3266.	ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis. [electronic resource] by Chourabi, Marwa Liew, Mei Shan Lim, Shawn H'mida-Ben Brahim, Dorra Boussofara, Lobna Dai, Liang Wong, Pui Mun Foo, Jia Nee Sriha, Badreddine Robinson, Kim Samirah Denil, Simon Common, John Ea Mamaï, Ons Ben Khalifa, Youcef Bollen, Mathieu Liu, Jianjun Denguezli, Mohamed Bonnard, Carine Saad, Ali Reversade, Bruno Producer: 20190307 In: The Journal of investigative dermatology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3267.	Identification of novel mutational drivers reveals oncogene dependencies in multiple myeloma. [electronic resource] by Walker, Brian A Mavrommatis, Konstantinos Wardell, Christopher P Ashby, T Cody Bauer, Michael Davies, Faith E Rosenthal, Adam Wang, Hongwei Qu, Pingping Hoering, Antje Samur, Mehmet Towfic, Fadi Ortiz, Maria Flynt, Erin Yu, Zhinuan Yang, Zhihong Rozelle, Dan Obenauer, John Trotter, Matthew Auclair, Daniel Keats, Jonathan Bolli, Niccolo Fulciniti, Mariateresa Szalat, Raphael Moreau, Philippe Durie, Brian Stewart, A Keith Goldschmidt, Hartmut Raab, Marc S Einsele, Hermann Sonneveld, Pieter San Miguel, Jesus Lonial, Sagar Jackson, Graham H Anderson, Kenneth C Avet-Loiseau, Herve Munshi, Nikhil Thakurta, Anjan Morgan, Gareth J Producer: 20190715 In: Blood vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3268.	ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree. [electronic resource] by Tunca, Ceren Akçimen, Fulya Coşkun, Cemre Gündoğdu-Eken, Aslı Kocoglu, Cemile Çevik, Betül Bekircan-Kurt, Can Ebru Tan, Ersin Başak, A Nazlı Producer: 20190214 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3269.	Genetic Analyses in Small-for-Gestational-Age Newborns. [electronic resource] by Stalman, Susanne E Solanky, Nita Ishida, Miho Alemán-Charlet, Cristina Abu-Amero, Sayeda Alders, Marielle Alvizi, Lucas Baird, William Demetriou, Charalambos Henneman, Peter James, Chela Knegt, Lia C Leon, Lydia J Mannens, Marcel M A M Mul, Adi N Nibbering, Nicole A Peskett, Emma Rezwan, Faisal I Ris-Stalpers, Carrie van der Post, Joris A M Kamp, Gerdine A Plötz, Frans B Wit, Jan M Stanier, Philip Moore, Gudrun E Hennekam, Raoul C Producer: 20180604 In: The Journal of clinical endocrinology and metabolism vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3270.	High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer. [electronic resource] by Diets, Illja J Waanders, Esmé Ligtenberg, Marjolijn J van Bladel, Diede A G Kamping, Eveline J Hoogerbrugge, Peter M Hopman, Saskia Olderode-Berends, Maran J Gerkes, Erica H Koolen, David A Marcelis, Carlo Santen, Gijs W van Belzen, Martine J Mordaunt, Dylan McGregor, Lesley Thompson, Elizabeth Kattamis, Antonis Pastorczak, Agata Mlynarski, Wojciech Ilencikova, Denisa van Silfhout, Anneke Vulto- Gardeitchik, Thatjana de Bont, Eveline S Loeffen, Jan Wagner, Anja Mensenkamp, Arjen R Kuiper, Roland P Hoogerbrugge, Nicoline Jongmans, Marjolijn C Producer: 20190927 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3271.	Targeted gene sequencing and whole-exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies. [electronic resource] by Rasmussen, M Sunde, L Nielsen, M L Ramsing, M Petersen, A Hjortshøj, T D Olsen, T E Tabor, A Hertz, J M Johnsen, I Sperling, L Petersen, O B Jensen, U B Møller, F G Petersen, M B Lildballe, D L Producer: 20190930 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3272.	Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience. [electronic resource] by Al-Dewik, Nader Mohd, Howaida Al-Mureikhi, Mariam Ali, Rehab Al-Mesaifri, Fatma Mahmoud, Laila Shahbeck, Noora El-Akouri, Karen Almulla, Mariam Al Sulaiman, Reem Musa, Sara Al-Marri, Ajayeb Al-Nabet Richard, Gabriele Juusola, Jane Solomon, Benjamin D Alkuraya, Fowzan S Ben-Omran, Tawfeg Producer: 20200610 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)
	3273.	The association of germline variants with chronic lymphocytic leukemia outcome suggests the implication of novel genes and pathways in clinical evolution. [electronic resource] by Mosquera Orgueira, Adrián Antelo Rodríguez, Beatriz Alonso Vence, Natalia Díaz Arias, José Ángel Díaz Varela, Nicolás Pérez Encinas, Manuel Mateo Allegue Toscano, Catarina Goiricelaya Seco, Elena María Carracedo Álvarez, Ángel Bello López, José Luis Producer: 20191125 In: BMC cancer vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3274.	Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. [electronic resource] by Assia Batzir, Nurit Kishor Bhagwat, Pranjali Larson, Austin Coban Akdemir, Zeynep Bagłaj, Maciej Bofferding, Leon Bosanko, Katherine B Bouassida, Skander Callewaert, Bert Cannon, Ashley Enchautegui Colon, Yazmin Garnica, Adolfo D Harr, Margaret H Heck, Sandra Hurst, Anna C E Jhangiani, Shalini N Isidor, Bertrand Littlejohn, Rebecca O Liu, Pengfei Magoulas, Pilar Mar Fan, Helen Marom, Ronit McLean, Scott Nezarati, Marjan M Nugent, Kimberly M Petersen, Michael B Rocha, Maria L Roeder, Elizabeth Smigiel, Robert Tully, Ian Weisfeld-Adams, James Wells, Katerina O Posey, Jennifer E Lupski, James R Beaudet, Arthur L Wangler, Michael F 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)
	3275.	Efficacy, Safety, and Biomarkers of Toripalimab in Patients with Recurrent or Metastatic Neuroendocrine Neoplasms: A Multiple-Center Phase Ib Trial. [electronic resource] by Lu, Ming Zhang, Panpan Zhang, Yanqiao Li, Zhongwu Gong, Jifang Li, Jie Li, Jian Li, Yan Zhang, Xiaotian Lu, Zhihao Wang, Xicheng Zhou, Jun Peng, Zhi Wang, Weifeng Feng, Hui Wu, Hai Yao, Sheng Shen, Lin Producer: 20210204 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)
	3276.	Functional Characterization of a Missense Variant of [electronic resource] by Zaib, Tahir Zhang, Chunhui Saleem, Komal Xu, Lidan Qin, Qian Wang, Yusi Ji, Wei Khan, Hanif Yu, Hanfei Zhu, Siqi Gao, Wei Huang, Yun Jia, Xueyuan Wu, Jie Song, Hongtao Zhang, Yanqiao Sun, Wenjing Fu, Songbin Producer: 20201007 In: Disease markers vol. 2020 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3277.	Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. [electronic resource] by Baldridge, Dustin Spillmann, Rebecca C Wegner, Daniel J Wambach, Jennifer A White, Frances V Sisco, Kathleen Toler, Tomi L Dickson, Patricia I Cole, F Sessions Shashi, Vandana Grange, Dorothy K Producer: 20210112 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3278.	Hispanic/Latino Patients with Gastric Adenocarcinoma Have Distinct Molecular Profiles Including a High Rate of Germline [electronic resource] by Wang, Sam C Yeu, Yunku Hammer, Suntrea T G Xiao, Shu Zhu, Min Hong, Changjin Clemenceau, Jean R Yoon, Lynn Y Nassour, Ibrahim Shen, Jeanne Agarwal, Deepak Reznik, Scott I Mansour, John C Yopp, Adam C Zhu, Hao Hwang, Tae Hyun Porembka, Matthew R Producer: 20201111 In: Cancer research vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3279.	Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome. [electronic resource] by Cheng, Yiping Sun, Yan Ji, Yiming Jiang, Dongqing Teng, Guoxin Zhou, Xiaoming Zhou, Xinli Li, Guimei Xu, Chao Producer: 20210323 In: Bioscience reports vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3280.	Molecular characterization and therapeutic reaction to dasatinib in a CML patient harboring a novel e8a2 BCR-ABL1 transcript with a somatic mutation in TP53BP2 and cadherin-10 genes. [electronic resource] by Zhang, Yang Cheng, Zhao Yan, Wen-Zhe Liu, Su-Fang Hu, Chun-Hong Zhang, Guang-Sen Producer: 20181211 In: Leukemia & lymphoma vol. 59 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.