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	2861.	An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature. [electronic resource] by Molnár, Ágnes Patócs, Attila Likó, István Nyírő, Gábor Rácz, Károly Tóth, Miklós Sármán, Beatrix 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)
	2862.	Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. [electronic resource] by Umair, Muhammad Seidel, Heide Ahmed, Ishtiaq Ullah, Asmat Haack, Tobias B Alhaddad, Bader Jan, Abid Rafique, Afzal Strom, Tim M Ahmad, Farooq Meitinger, Thomas Ahmad, Wasim Producer: 20180802 In: Journal of genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2863.	Genome-based exome sequencing analysis identifies GYG1, DIS3L and DDRGK1 are associated with myocardial infarction in Koreans. [electronic resource] by Lee, Ji-Young Moon, Sanghoon Kim, Yun Kyoung Lee, Sang-Hak Lee, Bok-Soo Park, Min-Young Park, Jeong Euy Jang, Yangsoo Han, Bok-Ghee Producer: 20180802 In: Journal of genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2864.	Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. [electronic resource] by Krall, Max Htun, Stephanie Schnur, Rhonda E Brooks, Alice S Baker, Laura de Alba Campomanes, Alejandra Lamont, Ryan E Gripp, Karen W Schneidman-Duhovny, Dina Innes, A Micheil Mancini, Grazia M S Slavotinek, Anne M Producer: 20200615 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)
	2865.	Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study. [electronic resource] by Olivier, Magali Bouaoun, Liacine Villar, Stephanie Robitaille, Alexis Cahais, Vincent Heguy, Adriana Byrnes, Graham Le Calvez-Kelm, Florence Torres-Mejía, Gabriela Alvarado-Cabrero, Isabel Imani-Razavi, Fazlollah Shahram Inés Sánchez, Gloria Jaramillo, Roberto Porras, Carolina Rodriguez, Ana Cecilia Garmendia, Maria Luisa Soto, José Luis Romieu, Isabelle Porter, Peggy Guenthoer, Jamie Rinaldi, Sabina Producer: 20191021 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2866.	Genetic predisposition in children with cancer - affected families' acceptance of Trio-WES. [electronic resource] by Brozou, Triantafyllia Taeubner, Julia Velleuer, Eunike Dugas, Martin Wieczorek, Dagmar Borkhardt, Arndt Kuhlen, Michaela Producer: 20180615 In: European journal of pediatrics vol. 177 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2867.	Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing. [electronic resource] by Wang, Binbin Li, Lin Zhu, Ying Zhang, Wei Wang, Xi Chen, Beili Li, Tengyan Pan, Hong Wang, Jing Kee, Kehkooi Cao, Yunxia Producer: 20180606 In: Human reproduction (Oxford, England) vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2868.	Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis. [electronic resource] by Hariri, Hadla Kurban, Mazen Al-Haddad, Christiane Fahed, Akl C Poladian, Sarin Khalil, Athar Abbas, Oussama Arabi, Mariam Bitar, Fadi Nemer, Georges Producer: 20190219 In: Journal of dermatological science vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2869.	Comparison of Biomarker Assays for [electronic resource] by Lassman, Andrew B Roberts-Rapp, Lisa Sokolova, Irina Song, Minghao Pestova, Ekaterina Kular, Rupinder Mullen, Carolyn Zha, Zheng Lu, Xin Gomez, Erica Bhathena, Anahita Maag, David Kumthekar, Priya Gan, Hui K Scott, Andrew M Guseva, Maria Holen, Kyle D Ansell, Peter J van den Bent, Martin J Producer: 20200706 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2870.	Identification of a homozygous GFPT2 variant in a family with asthenozoospermia. [electronic resource] by Askari, Masomeh Kordi-Tamandani, Dor Mohammad Almadani, Navid McElreavey, Kenneth Totonchi, Mehdi Producer: 20190415 In: Gene vol. 699 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2871.	Immunogenomic landscape of hepatocellular carcinoma with immune cell stroma and EBV-positive tumor-infiltrating lymphocytes. [electronic resource] by Kang, Hyo Jeong Oh, Ji-Hye Chun, Sung-Min Kim, Deokhoon Ryu, Yeon-Mi Hwang, Hee Sang Kim, Sang-Yeob An, Jihyun Cho, Eun Jeong Lee, Hyeonjin Shim, Ju Hyun Sung, Chang Ohk Yu, Eunsil Producer: 20201214 In: Journal of hepatology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2872.	Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management. [electronic resource] by Etzel, Justin D Neely, Kimberly A Ely, Amanda L Producer: 20210409 In: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2873.	When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase. [electronic resource] by Portaro, Simona Gugliandolo, Agnese Scionti, Domenico Cammaroto, Simona Morabito, Rosa Leonardi, Salvatore Fraggetta, Filippo Bramanti, Placido Mazzon, Emanuela Producer: 20180612 In: Medicine vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2874.	IRS2 mutations linked to invasion in pleomorphic invasive lobular carcinoma. [electronic resource] by Zhu, Sha Ward, B Marie Yu, Jun Matthew-Onabanjo, Asia N Janusis, Jenny Hsieh, Chung-Cheng Tomaszewicz, Keith Hutchinson, Lloyd Zhu, Lihua Julie Kandil, Dina Shaw, Leslie M Producer: 20191120 In: JCI insight vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2875.	Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration. [electronic resource] by Kersten, Eveline Geerlings, Maartje J Pauper, Marc Corominas, Jordi Bakker, Bjorn Altay, Lebriz Fauser, Sascha de Jong, Eiko K Hoyng, Carel B den Hollander, Anneke I Producer: 20191114 In: Clinical genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2876.	Somatic Bi-allelic Loss of TSC Genes in Eosinophilic Solid and Cystic Renal Cell Carcinoma. [electronic resource] by Mehra, Rohit Vats, Pankaj Cao, Xuhong Su, Fengyun Lee, Nicole D Lonigro, Robert Premkumar, Kumpati Trpkov, Kiril McKenney, Jesse K Dhanasekaran, Saravana M Chinnaiyan, Arul M Producer: 20190425 In: European urology vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2877.	A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. [electronic resource] by Schrauwen, Isabelle Chakchouk, Imen Liaqat, Khurram Jan, Abid Nasir, Abdul Hussain, Shabir Nickerson, Deborah A Bamshad, Michael J Ullah, Asmat Ahmad, Wasim Leal, Suzanne M Producer: 20190326 In: Human genetics vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2878.	De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. [electronic resource] by Wojcik, Monica H Okada, Kyoko Prabhu, Sanjay P Nowakowski, Dan W Ramsey, Keri Balak, Chris Rangasamy, Sampath Brownstein, Catherine A Schmitz-Abe, Klaus Cohen, Julie S Fatemi, Ali Shi, Jiahai Grant, Ellen P Narayanan, Vinodh Ho, Hsin-Yi Henry Agrawal, Pankaj B 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)
	2879.	Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. [electronic resource] by Cangul, Hakan Liao, Xiao-Hui Schoenmakers, Erik Kero, Jukka Barone, Sharon Srichomkwun, Panudda Iwayama, Hideyuki Serra, Eva G Saglam, Halil Eren, Erdal Tarim, Omer Nicholas, Adeline K Zvetkova, Ilona Anderson, Carl A Frankl, Fiona E Karet Boelaert, Kristien Ojaniemi, Marja Jääskeläinen, Jarmo Patyra, Konrad Löf, Christoffer Williams, E Dillwyn Soleimani, Manoocher Barrett, Timothy Maher, Eamonn R Chatterjee, V Krishna Refetoff, Samuel Schoenmakers, Nadia Producer: 20200106 In: JCI insight vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2880.	Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. [electronic resource] by Paumard-Hernández, Beatriz Calvete, Oriol Inglada Pérez, Lucia Tejero, Héctor Al-Shahrour, Fátima Pita, Guillermo Barroso, Alicia Carlos Triviño, Juan Urioste, Miguel Valverde, Claudia González Billalabeitia, Enrique Quiroga, Vanesa Francisco Rodríguez Moreno, Juan Fernández Aramburo, Antonio López, Cristina Maroto, Pablo Sastre, Javier José Juan Fita, María Duran, Ignacio Lorenzo-Lorenzo, Isabel Iranzo, Patricia García Del Muro, Xavier Ros, Silverio Zambrana, Francisco María Autran, Ana Benítez, Javier Producer: 20190125 In: International journal of cancer vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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