Results 91 to 100 of about 2,233 (173)

Comprehensive Genomic Analysis in Hereditary Adrenal and Extra-Adrenal Paragangliomas. [PDF]

Endocr Pathol
Purnaghshband H, Tuzlali E, Deka KB, Bruce JP, Farncombe KM, Gillies B, Prokopec SD, Pugh T, Redmond S, Redondo L, Wang H, Ezzat S, Mete O, Kim RH.   +13 more
europepmc   +1 more source

A novel <i>UBASH3B::PVT1</i> fusion in B-cell acute lymphoblastic leukemia with <i>PAX5-PTD</i>: a case report and literature review. [PDF]

Blood Sci
Zhuang X, Wang Y, Yang Q, Shen H, Wang M, Gao M, Xiao B, Liu T, Zhou J, You T, Wang Q, Kong Y, Xu X, Cai M, Zhuo Y, Huang H, Chen S, Wang Q.   +17 more
europepmc   +1 more source

Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema. [PDF]

J Clin Immunol
Batlle-Masó L, Neveling K, Gil-Serrano J, Kamping E, den Ouden A, Timmermans R, Bruch-Tàrrega A, Aguiló-Cucurull A, Perurena-Prieto J, Fernández-Álvarez P, Steehouwer M, Hoischen A, Guilarte M, Colobran R.   +13 more
europepmc   +1 more source

Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings. [PDF]

Curr Issues Mol Biol
Kong D, Zhao J, Diao H, Qiu S, Peng Y, Liu T.   +5 more
europepmc   +1 more source

Small Copy Number Neutral Intrachromosomal Translocation of PAX6 and Aniridia.

JAMA Ophthalmol
Reis LM, Tomei J, Gallagher R, Matter A, Carroll J, Broeckel U, Semina EV.   +6 more
europepmc   +1 more source

A Novel Complete F8 Tandem Duplication Causing Elevated Factor VIII Activity and Associated with Venous Thromboembolism. [PDF]

TH Open
Mao Y, Lu Y, Wu W, Ding Q, Wang X, Dai J, Wu X.   +6 more
europepmc   +1 more source

Variable selection for clinical prediction models in low-dimensional data - a simulation study comparing traditional regression and machine learning methods. [PDF]

BMC Med Res Methodol
Vey JA, Heinze G, Kieser M.
europepmc   +1 more source

From Chromosomes to Precision Therapy: Clinical Cytogenetics and Cytogenomics in the Era of Genomic Medicine. [PDF]

Genes (Basel)
Liu J.
europepmc   +1 more source

Comprehensive assessment of the genomic stability of human induced pluripotent stem cells for clinical applications. [PDF]

Stem Cell Res Ther
Zhang K, Na T, Jia C, Yuan X, Guo M, Yang X, Li M, Jia W, Bai Z, Lu J, Liu Z, Meng S.   +11 more
europepmc   +1 more source

Leveraging a spectrum of cytogenomics methods for profiling complex karyotypes in chronic lymphocytic leukemia. [PDF]

Hum Genomics
Cernovska K, Penazova S, Stranska K, Porc JP, Skalakova P, Ondrouskova E, Rausch T, Svaton J, Tausova K, Kazdova N, Pal K, Hynst J, Benes V, Jarosova M, Pospisilova S, Kotaskova J, Plevova K.   +16 more
europepmc   +1 more source