Results 161 to 170 of about 9,097 (228)

Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review. [PDF]

Diagnostics (Basel)
Doroftei B, Savuca A, Anton N, Maftei R, Cretu AM, Bivoleanu AR, Doroftei M, Ilea C.   +7 more
europepmc   +1 more source

Successful Live Birth Following PGT-SR in a Couple Who Were Both Carriers of Balanced Reciprocal Translocations Identified During Recurrent Pregnancy Loss Workup: A Case Report. [PDF]

Reprod Med Biol
Negishi H, Higeta D, Maki S, Satoh S, Matsumiya Y, Takano N, Yokota H, Yokota M, Yokota Y.   +8 more
europepmc   +1 more source

Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies. [PDF]

BMC Pregnancy Childbirth
Zhang Q, Cheng Y, Tang J, Li J, Cao Y, Huang D, Wang S, Zhu J.   +7 more
europepmc   +1 more source

Synaptic and intrinsic membrane defects disrupt early neural network dynamics in Down syndrome. [PDF]

Nat Commun
Hannan SB, Alić I, Murray A, Kwon J, Mortensen M, Kang HJ, Plećaš A, Goh PA, O'Brien NL, Naud R, Nižetić D, Smart TG.   +11 more
europepmc   +1 more source

Performance and clinical implications of non-invasive prenatal testing for rare chromosomal abnormalities: a retrospective study of 94,125 cases. [PDF]

Front Mol Biosci
Qi H, Chen H, Zhang Z, Gan J, Liu H, Yuan X, Luo F, Chen J, Shen S.   +8 more
europepmc   +1 more source

Clinical application value of targeted amplicon sequencing technology in fetuses with uniparental disomy-related imprinting disorders: a multicenter study. [PDF]

J Transl Med
Liu N, Huang S, Zhang B, Zhou Y, Jin C, Sun P, Yang L, Wang X, Hu Y, Jin H, Wang B, Chen S, Yang X, Li J, Sun X, Liu W, Wei Y, Mu K, Liu L, Feng Y, Shi P, Kong X.   +21 more
europepmc   +1 more source

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses. [PDF]

BMC Med Genomics
Deng Y, Zeng L, Wu Z, Wang J, Ye M, Chen C, Wei P, Wang D, Deng G, Zhu S.   +9 more
europepmc   +1 more source

Congenital uterine anomalies and congenital heart disease: An underappreciated association? [PDF]

Int J Cardiol Congenit Heart Dis
VanDolah HJ, Mostajeran K, Goncalves L, Franklin WJ, Parks M, Moe TG.   +5 more
europepmc   +1 more source

Post-Varicella Purpura Fulminans With Extensive Skin Necrosis in a Child. [PDF]

EJHaem
Correia Pires M, Costa E Castro A, Marujo F, Valsassina R, Patena Forte J, de Pais de Faria J.   +5 more
europepmc   +1 more source