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	2521.	Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. [electronic resource] by Radha Rama Devi, Akella Naushad, Shaik Mohammad Lingappa, Lokesh Producer: 20210412 In: Pediatric neurology vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2522.	Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. [electronic resource] by Arts, Peer Garland, Jessica Byrne, Alicia B Hardy, Tristan S E Babic, Milena Feng, Jinghua Wang, Paul Ha, Thuong King-Smith, Sarah L Schreiber, Andreas W Crawford, April Manton, Nick Moore, Lynette Barnett, Christopher P Scott, Hamish S 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)
	2523.	Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF. [electronic resource] by Khalil, Athar Karroum, Samer Bou Barake, Rana Dunya, Gabriel Abou-Rizk, Samer Kamar, Amina Nemer, Georges Bassim, Marc Producer: 20200303 In: BMC medical genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2524.	Rapid progressive lung cancers harbouring multiple clonal driver mutations with big bang evolution model. [electronic resource] by Kunimasa, Kei Hirotsu, Yosuke Nakamura, Harumi Tamiya, Motohiro Iijima, Yuki Ishida, Hiroto Hamamoto, Yuichiro Maniwa, Tomohiro Kimura, Toru Nishino, Kazumi Goto, Taichiro Amemiya, Kenji Mochizuki, Hitoshi Oyama, Toshio Nakatsuka, Shin-Ichi Kumagai, Toru Okami, Jiro Higashiyama, Masahiko Imamura, Fumio Omata, Masao Producer: 20200921 In: Cancer genetics vol. 241 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2525.	The tale of two genes: from next-generation sequencing to phenotype. [electronic resource] by Rohanizadegan, Mersedeh Siddharath, Aishwarya Retterer, Kyle Hung, Christina Bodamer, Olaf Producer: 20210527 In: Cold Spring Harbor molecular case studies vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2526.	Grandparental genotyping enhances exome variant interpretation. [electronic resource] by Daum, Hagit Mor-Shaked, Hagar Ta-Shma, Asaf Shaag, Avraham Silverstein, Shira Shohat, Mordechai Elpeleg, Orly Meiner, Vardiella Harel, Tamar Producer: 20210203 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)
	2527.	APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans. [electronic resource] by Yeh, Tzu-Wen Okano, Tsubasa Naruto, Takuya Yamashita, Motoi Okamura, Miko Tanita, Kay Du, Likun Pan-Hammarström, Qiang Mitsuiki, Noriko Okada, Satoshi Kanegane, Hirokazu Imai, Kohsuke Morio, Tomohiro Producer: 20210315 In: The Journal of allergy and clinical immunology vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2528.	Centromeric cohesion failure invokes a conserved choreography of chromosomal mis-segregations in pancreatic neuroendocrine tumor. [electronic resource] by Quevedo, Rene Spreafico, Anna Bruce, Jeff Danesh, Arnavaz El Ghamrasni, Samah Giesler, Amanda Hanna, Youstina Have, Cherry Li, Tiantian Yang, S Y Cindy Zhang, Tong Asa, Sylvia L Haibe-Kains, Benjamin Krzyzanowska, Monika Smith, Adam C Singh, Simron Siu, Lillian L Pugh, Trevor J Producer: 20210513 In: Genome medicine vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2529.	Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia. [electronic resource] by Almusafri, Fatima Elamin, Hiba E Khalaf, Tamam E Ali, Alaa Ben-Omran, Tawfeg El-Hattab, Ayman W Producer: 20180326 In: Blood cells, molecules & diseases vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2530.	Analysis of NOD-like receptor NLRP1 in multiple sclerosis families. [electronic resource] by Bernales, Cecily Q Encarnacion, Mary Criscuoli, Maria G Yee, Irene M Traboulsee, Anthony L Sadovnick, A Dessa Vilariño-Güell, Carles Producer: 20180917 In: Immunogenetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2531.	Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma. [electronic resource] by Chicard, Mathieu Colmet-Daage, Leo Clement, Nathalie Danzon, Adrien Bohec, Mylène Bernard, Virginie Baulande, Sylvain Bellini, Angela Deveau, Paul Pierron, Gaëlle Lapouble, Eve Janoueix-Lerosey, Isabelle Peuchmaur, Michel Corradini, Nadège Defachelles, Anne Sophie Valteau-Couanet, Dominique Michon, Jean Combaret, Valérie Delattre, Olivier Schleiermacher, Gudrun Producer: 20190924 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)
	2532.	Next-generation sequencing of patients with congenital anosmia. [electronic resource] by Alkelai, Anna Olender, Tsviya Dode, Catherine Shushan, Sagit Tatarskyy, Pavel Furman-Haran, Edna Boyko, Valery Gross-Isseroff, Ruth Halvorsen, Matthew Greenbaum, Lior Milgrom, Roni Yamada, Kazuya Haneishi, Ayumi Blau, Ilan Lancet, Doron Producer: 20180723 In: European journal of human genetics : EJHG vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2533.	A RNA-Sequencing approach for the identification of novel long non-coding RNA biomarkers in colorectal cancer. [electronic resource] by Yamada, Atsushi Yu, Pingjian Lin, Wei Okugawa, Yoshinaga Boland, C Richard Goel, Ajay Producer: 20181127 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2534.	Characterization of genetic intratumor heterogeneity in colorectal cancer and matching patient-derived spheroid cultures. [electronic resource] by Árnadóttir, Sigrid S Jeppesen, Maria Lamy, Philippe Bramsen, Jesper B Nordentoft, Iver Knudsen, Michael Vang, Søren Madsen, Mogens R Thastrup, Ole Thastrup, Jacob L Andersen, Claus Producer: 20190215 In: Molecular oncology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2535.	Gleason Score 7 Prostate Cancers Emerge through Branched Evolution of Clonal Gleason Pattern 3 and 4. [electronic resource] by Sowalsky, Adam G Kissick, Haydn T Gerrin, Sean J Schaefer, Rachel J Xia, Zheng Russo, Joshua W Arredouani, M Simo Bubley, Glenn J Sanda, Martin G Li, Wei Ye, Huihui Balk, Steven P Producer: 20180409 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2536.	A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing. [electronic resource] by Macchiaiolo, Marina Barresi, Sabina Cecconi, Francesco Zanni, Ginevra Niceta, Marcello Bellacchio, Emanuele Lazzarino, Giacomo Amorini, Angela Maria Bertini, Enrico Silvio Rizza, Salvatore Contardi, Benedetta Tartaglia, Marco Bartuli, Andrea Producer: 20180601 In: Italian journal of pediatrics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2537.	TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. [electronic resource] by Corbitt, Holly Morris, Shaine A Gravholt, Claus H Mortensen, Kristian H Tippner-Hedges, Rebecca Silberbach, Michael Maslen, Cheryl L 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)
	2538.	Comparison of 1p and 19q status of glioblastoma by whole exome sequencing, array-comparative genomic hybridization, and fluorescence in situ hybridization. [electronic resource] by Sim, Jongmin Nam, Do-Hyun Kim, Yuil Lee, In-Hee Choi, Jung Won Sa, Jason K Suh, Yeon-Lim Producer: 20180905 In: Medical oncology (Northwood, London, England) vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2539.	X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family. [electronic resource] by Khan, Muhammad Jaseem Pollock, Nijole Jiang, Huaiyang Castro, Carlos Nazli, Rubina Ahmed, Jawad Basit, Sulman Rajkovic, Aleksandar Yatsenko, Alexander N Producer: 20191125 In: Scientific reports vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2540.	Insights into the genomic landscape of MYD88 wild-type Waldenström macroglobulinemia. [electronic resource] by Hunter, Zachary R Xu, Lian Tsakmaklis, Nickolas Demos, Maria G Kofides, Amanda Jimenez, Cristina Chan, Gloria G Chen, Jiaji Liu, Xia Munshi, Manit Gustine, Joshua Meid, Kirsten Patterson, Christopher J Yang, Guang Dubeau, Toni Samur, Mehmet K Castillo, Jorge J Anderson, Kenneth C Munshi, Nikhil C Treon, Steven P Producer: 20190919 In: Blood advances vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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