Association of the Rheumatoid Arthritis Severity Variant rs26232 with the Invasive Activity of Synovial Fibroblasts

by Emma R Dorris, Eimear Linehan, Michelle Trenkmann, Douglas J Veale, Ursula Fearon, Anthony G. Wilson
Published 2019-10-01

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

by Marsha R. Mailick, Arezoo Movaghar, Arezoo Movaghar, Jinkuk Hong, Jan S. Greenberg, Leann S. DaWalt, Lili Zhou, Lili Zhou, Jonathan Jackson, Paul J. Rathouz, Paul J. Rathouz, Mei W. Baker, Mei W. Baker, Murray Brilliant, Murray Brilliant, David Page, Elizabeth Berry-Kravis, Elizabeth Berry-Kravis
Published 2018-05-01

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders

by Maria Marín, María José Ramírez, Miriam Aza Carmona, Nan Jia, Tomoo Ogi, Massimo Bogliolo, Jordi Surrallés
Published 2019-01-01

Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies

by Wenfu Li, Xianfu Wang, Shibo Li
Published 2018-08-01

Genotype-phenotype correlation in Brazillian Rett syndrome patients Correlação genótipo-fenótipo em pacientes brasileiras com síndrome de Rett

by Fernanda T. de Lima, Decio Brunoni, José Salomão Schwartzman, Maria Cristina Pozzi, Fernando Kok, Yara Juliano, Lygia da Veiga Pereira
Published 2009-09-01

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population

by Yun Peng, Wei Ye, Zhao Chen, Huirong Peng, Puzhi Wang, Xuan Hou, Chunrong Wang, Xin Zhou, Xiaocan Hou, Tianjiao Li, Rong Qiu, Zhengmao Hu, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang
Published 2018-12-01

The Macroevolutionary Consequences of Niche Construction in Microbial Metabolism

by Djordje Bajić, Djordje Bajić, María Rebolleda-Gómez, María Rebolleda-Gómez, María Rebolleda-Gómez, Martha M. Muñoz, Álvaro Sánchez, Álvaro Sánchez
Published 2021-10-01

Laboratory diagnosis and follow-up of Romanian Gaucher disease patients

by Drugan Cristina, Drugan Tudor, Caillaud Catherine, Grigorescu-Sido Paula, Nistor Tiberiu, Crăciun Alexandra M.
Published 2017-07-01

The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population

by Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F, Tekin M, Kaymaz N, Ozdemir O
Published 2016-12-01

Accelerating structure‐function mapping using the ViVa webtool to mine natural variation

by Morgan O. Hamm, Britney L. Moss, Alexander R. Leydon, Hardik P. Gala, Amy Lanctot, Román Ramos, Hannah Klaeser, Andrew C. Lemmex, Mollye L. Zahler, Jennifer L. Nemhauser, R. Clay Wright
Published 2019-07-01

Editorial: Genotype-Phenotype Correlation in Parkinsonian Conditions

by Luca Marsili, Ignacio F. Mata, Marcelo A. Kauffman
Published 2021-08-01

Steelhead (Oncorhynchus mykiss) lineages and sexes show variable patterns of association of adult migration timing and age‐at‐maturity traits with two genomic regions

by Stuart C. Willis, Jon E. Hess, Jeff K. Fryer, John M. Whiteaker, Chris Brun, Ryan Gerstenberger, Shawn R. Narum
Published 2020-12-01

Metabolic characterization of an adaptively evolved cell factory for continuous production of 1.3-propanediol and development of a new catalyst for 1.3 propanediol and acetone co-p...

by Tian, Liang
Published 2014

Unraveling the genotypic and phenotypic complexities of genetic hearing loss

by Booth, Kevin T.
Published 2018

Sequence Variation in the DDAH1 Gene Predisposes for Delayed Cerebral Ischemia in Subarachnoidal Hemorrhage

by Juliane Hannemann, Daniel Appel, Miriam Seeberger-Steinmeister, Tabea Brüning, Julia Zummack, Rainer Böger
Published 2020-12-01

In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B

by Lennon Meléndez-Aranda, Ana Rebeca Jaloma-Cruz, Nina Pastor, Marina María de Jesús Romero-Prado
Published 2019-06-01

Transcriptomes of Different Tissues of Flax (Linum usitatissimum L.) Cultivars With Diverse Characteristics

by Alexey A. Dmitriev, Roman O. Novakovskiy, Elena N. Pushkova, Tatiana A. Rozhmina, Tatiana A. Rozhmina, Alexander A. Zhuchenko, Alexander A. Zhuchenko, Nadezhda L. Bolsheva, Artemy D. Beniaminov, Vladimir A. Mitkevich, Liubov V. Povkhova, Liubov V. Povkhova, Ekaterina M. Dvorianinova, Ekaterina M. Dvorianinova, Anastasiya V. Snezhkina, Anna V. Kudryavtseva, George S. Krasnov, Nataliya V. Melnikova
Published 2020-11-01

NF1 microdeletion syndrome: case report of two new patients

by Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla
Published 2019-11-01

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

by Chen Liu, Xiaoying Li, Jing Cui, Rui Dong, Yvqiang Lv, Dong Wang, Haiyan Zhang, Xiaomei Li, Zilong Li, Jian Ma, Yi Liu, Zhongtao Gai
Published 2020-10-01

Naturally-Occurring Rare Mutations Cause Mild to Catastrophic Effects in the Multifunctional and Cancer-Associated NQO1 Protein

by Juan Luis Pacheco-García, Mario Cano-Muñoz, Isabel Sánchez-Ramos, Eduardo Salido, Angel L. Pey
Published 2020-11-01