Results 151 to 160 of about 9,097 (228)

A Newborn With Down-Klinefelter Syndrome and Bilateral Congenital Cataracts Harboring a Novel MAPKAPK3 Mutation. [PDF]

J Vitreoretin Dis
Arias-González N, Balikov DA, Ciccioli M, Negron CI, Hua HU, Malek DA, Berrocal AM.   +6 more
europepmc   +1 more source

False Positive or False Negative-An Interesting Case in Prenatal Diagnostic Laboratory. [PDF]

J Clin Lab Anal
Zhang P, Sun Y, Tian H, Shi X, Rong L, Li Y.   +5 more
europepmc   +1 more source

Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples. [PDF]

PLoS One
Wen L, Zhang Y, Zhang W, Mao A, Li X.
europepmc   +1 more source

The Role of genetic sonography in chromosomal anomaly detection in low-resource settings: A case report of Edwards syndrome. [PDF]

Radiol Case Rep
Andargie E, Belay S, Gebresellassie H, Afework H, Kebede T, Wubie Z.   +5 more
europepmc   +1 more source

Repeated Pregnancies With Full Trisomy 21: A Case Report and Literature Review. [PDF]

Cureus
Hasegawa Y, Miura S, Nagata A, Yoshiura KI, Miura K.   +4 more
europepmc   +1 more source

Myocardial reprogramming by HMGN1 underlies heart defects in trisomy 21. [PDF]

Nature
Ranade SS, Li F, Whalen S, Pelonero A, Ye L, Huang Y, Brand A, Nishino T, Mital R, Boileau RM, Koback F, Padmanabhan A, Yu V, Cimarosti B, Presas-Ramos D, Merriman AF, Wallace LG, Nguyen A, Poulis N, Costa MW, Gifford CA, Pollard KS, Srivastava D.   +22 more
europepmc   +1 more source

Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR. [PDF]

BMC Genomics
Zheng T, Cheng D, Yang Y, Lu S, Li H, Xie L, Li Q, Ye H.   +7 more
europepmc   +1 more source

Repeat cell-free DNA screening after initial false-positive results and term placental analysis for confined mosaicism: a prospective cohort study. [PDF]

Arch Gynecol Obstet
Raymond YC, Fernando S, Menezes M, Mol BW, Hardy T, Levin K, Brown E, McLennan A, Lorber Rolnik D.   +8 more
europepmc   +1 more source