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	2701.	Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. [electronic resource] by Dimitrov, Bianca Himmelreich, Nastassja Hipgrave Ederveen, Agnes L Lüchtenborg, Christian Okun, Jürgen G Breuer, Maximilian Hutter, Anna-Marlen Carl, Matthias Guglielmi, Luca Hellwig, Andrea Thiemann, Kai Christian Jost, Markus Peters, Verena Staufner, Christian Hoffmann, Georg F Hackenberg, Annette Paramasivam, Nagarajan Wiemann, Stefan Eils, Roland Schlesner, Matthias Strahl, Sabine Brügger, Britta Wuhrer, Manfred Christoph Korenke, G Thiel, Christian Producer: 20190205 In: Molecular genetics and metabolism vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2702.	A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract. [electronic resource] by Ching, Yung-Hao Yeh, Jih-I Fan, Wen-Lang Chen, Ko-Chen Yeh, Man-Chieh Woon, Peng Yeong Lee, Yuan-Chieh Producer: 20190307 In: Journal of the Formosan Medical Association = Taiwan yi zhi vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2703.	Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors. [electronic resource] by Song, Ju Sun Kang, Jong-Sun Kim, Young-Eun Park, Seung-Jung Park, Kyoung-Min Huh, June Kim, June Soo Cho, Hana Ki, Chang-Seok On, Young Keun Producer: 20180118 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2704.	Mutations of MYH14 are associated to anorectal malformations with recto-perineal fistulas in a small subset of Chinese population. [electronic resource] by Zhu, Zhongxian Peng, Lei Chen, Guanglin Jiang, Weiwei Shen, Ziyang Du, Chunxia Zang, Rujin Su, Yang Xie, Hua Li, Hongxing Xia, Yankai Tang, Weibing Producer: 20180528 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2705.	Egyptian tale from India: application of whole-exome sequencing in diagnosis of atypical familial Mediterranean fever. [electronic resource] by Sandhya, Pulukool Vellarikkal, Shamsudheen Karuthedath Nair, Aswin Ravi, Rowmika Mathew, John Jayarajan, Rijith Kumar, Anoop Verma, Ankit Sivadas, Ambily Danda, Debashish Sivasubbu, Sridhar Scaria, Vinod Producer: 20180806 In: International journal of rheumatic diseases vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2706.	Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome. [electronic resource] by Yamamoto, Toshiyuki Lu, Yongping Nakamura, Ryoko Shimojima, Keiko Kira, Ryutaro Producer: 20190829 In: Congenital anomalies vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2707.	Patients with SATB2-associated syndrome exhibiting multiple odontomas. [electronic resource] by Kikuiri, Takashi Mishima, Hiroyuki Imura, Hideto Suzuki, Satoshi Matsuzawa, Yusuke Nakamura, Takashi Fukumoto, Satoshi Yoshimura, Yoshitaka Watanabe, Satoshi Kinoshita, Akira Yamada, Takahiro Shindoh, Masanobu Sugita, Yoshihiko Maeda, Hatsuhiko Yawaka, Yasutaka Mikoya, Tadashi Natsume, Nagato Yoshiura, Koh-Ichiro 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)
	2708.	Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. [electronic resource] by Fountain, Michael D Oleson, David S Rech, Megan E Segebrecht, Lara Hunter, Jill V McCarthy, John M Lupo, Philip J Holtgrewe, Manuel Moran, Rocio Rosenfeld, Jill A Isidor, Bertrand Le Caignec, Cédric Saenz, Margarita S Pedersen, Robert C Morgan, Thomas M Pfotenhauer, Jean P Xia, Fan Bi, Weimin Kang, Sung-Hae L Patel, Ankita Krantz, Ian D Raible, Sarah E Smith, Wendy Cristian, Ingrid Torti, Erin Juusola, Jane Millan, Francisca Wentzensen, Ingrid M Person, Richard E Küry, Sébastien Bézieau, Stéphane Uguen, Kévin Férec, Claude Munnich, Arnold van Haelst, Mieke Lichtenbelt, Klaske D van Gassen, Koen Hagelstrom, Tanner Chawla, Aditi Perry, Denise L Taft, Ryan J Jones, Marilyn Masser-Frye, Diane Dyment, David Venkateswaran, Sunita Li, Chumei Escobar, Luis F Horn, Denise Spillmann, Rebecca C Peña, Loren Wierzba, Jolanta Strom, Tim M Parenti, Ilaria Kaiser, Frank J Ehmke, Nadja Schaaf, Christian P Producer: 20200206 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2709.	Brief Report: Whole-Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans. [electronic resource] by Gourh, Pravitt Remmers, Elaine F Boyden, Steven E Alexander, Theresa Morgan, Nadia D Shah, Ami A Mayes, Maureen D Doumatey, Ayo Bentley, Amy R Shriner, Daniel Domsic, Robyn T Medsger, Thomas A Steen, Virginia D Ramos, Paula S Silver, Richard M Korman, Benjamin Varga, John Schiopu, Elena Khanna, Dinesh Hsu, Vivien Gordon, Jessica K Saketkoo, Lesley Ann Gladue, Heather Kron, Brynn Criswell, Lindsey A Derk, Chris T Bridges, S Louis Shanmugam, Victoria K Kolstad, Kathleen D Chung, Lorinda Jan, Reem Bernstein, Elana J Goldberg, Avram Trojanowski, Marcin Kafaja, Suzanne Maksimowicz-McKinnon, Kathleen M Mullikin, James C Adeyemo, Adebowale Rotimi, Charles Boin, Francesco Kastner, Daniel L Wigley, Fredrick M Producer: 20190722 In: Arthritis & rheumatology (Hoboken, N.J.) vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2710.	A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. [electronic resource] by Ji, Jianling Shen, Lishuang Bootwalla, Moiz Quindipan, Catherine Tatarinova, Tatiana Maglinte, Dennis T Buckley, Jonathan Raca, Gordana Saitta, Sulagna C Biegel, Jaclyn A Gai, Xiaowu Producer: 20200407 In: Cold Spring Harbor molecular case studies vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2711.	Variants in DOCK3 cause developmental delay and hypotonia. [electronic resource] by Wiltrout, Kimberly Ferrer, Alejandro van de Laar, Ingrid Namekata, Kazuhiko Harada, Takayuki Klee, Eric W Zimmerman, Michael T Cousin, Margot A Kempainen, Jennifer L Babovic-Vuksanovic, Dusica van Slegtenhorst, Marjon A Aarts-Tesselaar, Coranne D Schnur, Rhonda E Andrews, Marisa Shinawi, Marwan 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)
	2712.	Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion. [electronic resource] by Spataro, Rossella Kousi, Maria Farhan, Sali M K Willer, Jason R Ross, Jay P Dion, Patrick A Rouleau, Guy A Daly, Mark J Neale, Benjamin M La Bella, Vincenzo Katsanis, Nicholas Producer: 20200317 In: Human genomics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2713.	A novel complex neurological phenotype due to a homozygous mutation in FDX2. [electronic resource] by Gurgel-Giannetti, Juliana Lynch, David S Paiva, Anderson Rodrigues Brandão de Lucato, Leandro Tavares Yamamoto, Guilherme Thomsen, Christer Basu, Somsuvro Freua, Fernando Giannetti, Alexandre Varella de Assis, Bruno Della Ripa Ribeiro, Mara Dell Ospedale Barcelos, Isabella Sayão Souza, Katiane Monti, Fernanda Melo, Uirá Souto Amorim, Simone Silva, Leonardo G L Macedo-Souza, Lúcia Inês Vianna-Morgante, Angela M Hirano, Michio Van der Knaap, Marjo S Lill, Roland Vainzof, Mariz Oldfors, Anders Houlden, Henry Kok, Fernando Producer: 20190715 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)
	2714.	Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes. [electronic resource] by Pigors, Manuela Common, John E A Wong, Xuan Fei Colin C Malik, Sajid Scott, Claire A Tabarra, Niloofar Liany, Herty Liu, Jianjun Limviphuvadh, Vachiranee Maurer-Stroh, Sebastian Tang, Mark B Y Lench, Nicholas Margolis, David J van Heel, David A Mein, Charles A Novak, Natalija Baurecht, Hansjörg Weidinger, Stephan McLean, W H Irwin Irvine, Alan D O'Toole, Edel A Simpson, Michael A Kelsell, David P Producer: 20190912 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)
	2715.	ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure. [electronic resource] by Delcour, Clémence Amazit, Larbi Patino, Liliana C Magnin, Françoise Fagart, Jérôme Delemer, Brigitte Young, Jacques Laissue, Paul Binart, Nadine Beau, Isabelle Producer: 20190618 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2716.	Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype. [electronic resource] by Kluska, Anna Kulecka, Maria Litwin, Tomasz Dziezyc, Karolina Balabas, Aneta Piatkowska, Magdalena Paziewska, Agnieszka Dabrowska, Michalina Mikula, Michal Kaminska, Diana Wiernicka, Anna Socha, Piotr Czlonkowska, Anna Ostrowski, Jerzy Producer: 20200108 In: Liver international : official journal of the International Association for the Study of the Liver vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2717.	A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. [electronic resource] by Dillard, Kati J Hytönen, Marjo K Fischer, Daniel Tanhuanpää, Kimmo Lehti, Mari S Vainio-Siukola, Katri Sironen, Anu Anttila, Marjukka Producer: 20190304 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2718.	Tau filaments from multiple cases of sporadic and inherited Alzheimer's disease adopt a common fold. [electronic resource] by Falcon, Benjamin Zhang, Wenjuan Schweighauser, Manuel Murzin, Alexey G Vidal, Ruben Garringer, Holly J Ghetti, Bernardino Scheres, Sjors H W Goedert, Michel 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)
	2719.	Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. [electronic resource] by Maddirevula, Sateesh Alhebbi, Hamoud Alqahtani, Awad Algoufi, Talal Alsaif, Hessa S Ibrahim, Niema Abdulwahab, Firdous Barr, Mohammed Alzaidan, Hamad Almehaideb, Ali AlSasi, Omai Alhashem, Amal Hussaini, Hussa Al- Wali, Sami Alkuraya, Fowzan S Producer: 20200213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2720.	Study of Gene Expression Profiles of Breast Cancers in Indian Women. [electronic resource] by Malvia, Shreshtha Bagadi, Sarangadhara Appala Raju Pradhan, Dibyabhaba Chintamani, Chintamani Bhatnagar, Amar Arora, Deepshikha Sarin, Ramesh Saxena, Sunita Producer: 20201019 In: Scientific reports vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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