Results 91 to 100 of about 75,829 (126)

Polyclonal selection of immune checkpoint mutations in thyroid autoimmunity. [PDF]

Nature
Nicola PA, Lawson ARJ, Tidd A, Imbert J, Ishida Y, Wylie LA, Scott PA, Roberts K, Harvey LMR, Lensing SV, Cheng W, Abascal F, Leongamornlert D, Hooks Y, Mayho M, Müller-Sienerth N, Widaa S, Mincarelli L, Illing J, Peci F, Ng BL, Jarman GL, Russell AJC, Mahbubani KTA, Saeb-Parsy K, Paterson AL, Chatterjee K, Rahbari R, Bayraktar OA, Stratton MR, Campbell PJ, Tadross JA, Schoenmakers N, Martincorena I.   +33 more
europepmc   +1 more source

Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification. [PDF]

BMC Genomics
Samitova A, Belova V, Vasiliadis I, Repinskaia Z, Gorodnicheva T, Romanov E, Pogosyan M, Gaysin E, Nazarenko T, Rebrikov D, Korostin D.   +10 more
europepmc   +1 more source

Phenome-wide association of multiallelic copy number variation in 422,170 UK Biobank individuals reveals novel genetic loci associated with disease

Eisenberg M, Packer R, Shrine N, Demidov G, Pack H, Hollox EJ, Fawcett K.   +6 more
europepmc   +1 more source

Prenatal Diagnosis of Short Rib-Polydactyly Syndrome (SRPS), <i>DYNC2I1</i>-Related: Identification of a Novel Homozygous Missense Variant by Clinical Exome Sequencing. [PDF]

Clin Case Rep
Xian S, Zhao Q, Li Y, Li L, Li Z, Zhang M, Feng S, Zhao Q.   +7 more
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

Population-specific genomic risk markers for oral and maxillofacial malignancies in a high tobacco-exposure cohort from Eastern Uttar Pradesh, India. [PDF]

Bioinformation
Dubey PK, Mittal N, Chaubey G, Agarwal R, Naveen PG.   +4 more
europepmc   +1 more source

Clinical and genetic diagnostic challenges in presumed hereditary ataxia. [PDF]

J Neurol
Faust H, Duffek P, Drukewitz S, Gburek-Augustat J, Baum P, Bergner CC, Syrbe S, Schröter J, Jamra RA, Popp D.   +9 more
europepmc   +1 more source

Mutation detection in women diagnosed with endometrial cancer: a next-generation sequencing analysis. [PDF]

Mol Cell Oncol
Hussain SS, Amin ZA.
europepmc   +1 more source

Utilization of whole exome sequencing to identify hereditary mutations in Palestinian families with hereditary cancers. [PDF]

Front Genet
Qutob N, Hindiyeh M, Zahdeh F, Alian A, Thawabteh R, Sallam H, Natsheh A.   +6 more
europepmc   +1 more source