Results 301 to 310 of about 237,110 (353)

Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype. [PDF]

Genome Med
Blackburn NB, McComish BJ, Motyer A, Slimmer JC, Leslie SJ, Broadley SA, Jokubaitis VG, Van Der Walt A, Kermode AG, Lechner-Scott J, Parnell GP, Fabis-Pedrini MJ, Scott RJ, Jackson S, Maltby VE, Charlesworth JC, Burdon KP, Taylor BV, Kilpatrick TJ, Rubio JP.   +19 more
europepmc   +1 more source

Hemoglobin suresnes combined with α⁰-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing. [PDF]

Ann Hematol
Liu HL, Huang WT.
europepmc   +1 more source

Sperm sequencing reveals extensive positive selection in the male germline. [PDF]

Nature
Neville MDC, Lawson ARJ, Sanghvi R, Abascal F, Pham MH, Cagan A, Nicola PA, Bayzetinova T, Baez-Ortega A, Roberts K, Lensing SV, Widaa S, Alcantara RE, García MP, Wadge S, Stratton MR, Campbell PJ, Small K, Martincorena I, Hurles ME, Rahbari R.   +20 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Identification of CASKIN2 as a Novel Candidate Gene for Müllerian Duct Anomalies in Humans. [PDF]

Int J Womens Health
Wang J, Xing Q, Yang Y, Yin R, Cao Y.
europepmc   +1 more source

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis. [PDF]

Ann Med
Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, Boonchooduang N, Srisurapanont M.   +4 more
europepmc   +1 more source

Whole exome sequencing

, 2014
Bou de Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
openaire   +1 more source

Correction: TET2 gene mutation status associated with poor prognosis of transition zone prostate cancer: a retrospective cohort study based on whole exome sequencing and machine learning models. [PDF]

Front Endocrinol (Lausanne)
Wang Y, Yu A, Gao Z, Yuan X, Du X, Shi P, Guan H, Wen S, Wang H, Wang L, Fan B, Liu Z.   +11 more
europepmc   +1 more source

Identification of potential causative gene of anorectal malformation : Short title: causative gene of anorectal malformation. [PDF]

Sci Rep
Choochuen P, Sangkhathat S, Khongcharoen N, Nokchan N, Tiyaamornwong S, Sirichamratsakul K, Kaewrattana W, Surachat K.   +7 more
europepmc   +1 more source

The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis. [PDF]

Clin Exp Med
Xie S, Zhong Y.
europepmc   +1 more source