Results 281 to 290 of about 157,645 (329)

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

Genetic background and clinical phenotype in a Vietnamese cohort with Brugada syndrome: A whole exome sequencing study. [PDF]

JRSM Cardiovasc Dis
Tran VT, Pham HM, Phan PD, Tran TH, Tran VK.   +4 more
europepmc   +1 more source

Exploring the dynamic landscape of immunopeptidomics: Unravelling posttranslational modifications and navigating bioinformatics terrain

Mass Spectrometry Reviews, EarlyView.
Abstract Immunopeptidomics is becoming an increasingly important field of study. The capability to identify immunopeptides with pivotal roles in the human immune system is essential to shift the current curative medicine towards personalized medicine. Throughout the years, the field has matured, giving insight into the current pitfalls. Nowadays, it is
Daniel Flender, Frédérique Vilenne, Charlotte Adams, Kurt Boonen, Dirk Valkenborg, Geert Baggerman   +5 more
wiley   +1 more source

Whole-genome sequencing, as a powerful diagnostic tool in hearing loss, reveals novel variants in PTPRQ missed by whole-exome sequencing. [PDF]

BMC Med Genomics
Bengl D, Koparir A, Prastyo WE, Remmele C, Dittrich M, Flandin S, Shehata-Dieler W, Grimm C, Haaf T, Hofrichter MAH.   +9 more
europepmc   +1 more source

Benign Idiopathic Myoclonus: A New Clinical Entity?

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Myoclonus is a brief shock‐like, involuntary movement, which can be distinguished in physiologic, essential, epileptic, and symptomatic, according to its etiology. Physiologic myoclonus typically occurs in healthy people without disability or progression.
Giorgia Sciacca, A.M. Madelein van der Stouwe, Sterre van der Veen, Hendriekje Eggink, Martje E. van Egmond, Jan Willem J. Elting, Marina A.J. Tijssen   +6 more
wiley   +1 more source

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali. [PDF]

HGG Adv
Yalcouyé A, Schrauwen I, Traoré O, Bamba S, Aboagye ET, Acharya A, Bharadwaj T, Latanich R, Esoh K, Fortes-Lima CA, de Kock C, Jonas M, Maiga ADB, Cissé CAK, Sangaré MA, Guinto CO, Landouré G, Leal SM, Wonkam A.   +18 more
europepmc   +1 more source

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early‐Onset and Familial Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) p.L1795F variant was proposed as a genetic risk factor for Parkinson's disease (PD). However, its prevalence, phenotype, and origin remain unknown. Objective The aim was to evaluate the frequency and phenotype of p.L1795F in early‐onset PD (EOPD) and familial PD compared to healthy controls (HC ...
Miriam Ostrozovicova, Gertrud Tamas, Agsha Atputhavadivel, Petr Dusek, Milan Grofik, Vladimir Han, Petr Holly, Robert Jech, Katarina Kalinova, Peter Klivenyi, Norbert Kovacs, Kristina Kulcsarova, Egon Kurca, Alexandra Lackova, Hamin Lee, Patrick Lewis, Veronika Magocova, Maria Marekova, David Murphy, Ai Nagano, Jan Necpal, David Pinter, Miroslava Rabajdova, Evzen Ruzicka, Tereza Serranova, Katarzyna Smilowska, Krisztina Soos, Igor Straka, Tatiana Svorenova, Peter Valkovic, Katerina Zarubova, Zuzana Gdovinova, Henry Houlden, Mie Rizig, Matej Skorvanek, on behalf of the CEGEMOD consortium   +35 more
wiley   +1 more source

Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery. [PDF]

Eur J Med Res
Tan JK, Awuah WA, Ahluwalia A, Sanker V, Ben-Jaafar A, Tenkorang PO, Aderinto N, Mehta A, Darko K, Shah MH, Roy S, Abdul-Rahman T, Atallah O.   +12 more
europepmc   +1 more source

Whole exome sequencing analysis of 167 men with primary infertility. [PDF]

BMC Med Genomics
Zhou H, Yin Z, Ni B, Lin J, Luo S, Xie W.   +5 more
europepmc   +1 more source

Genomic landscape of gallbladder cancer: insights from whole exome sequencing. [PDF]

Int J Surg
Awasthi S, Kumar R, Pradhan D, Rawal N, Goel H, Sahu P, Sisodiya S, Rana R, Kumar S, Dash NR, Das P, Agrawal U, Rath GK, Kaur T, Dhaliwal RS, Hussain S, Saluja SS, Tanwar P.   +17 more
europepmc   +1 more source