Results 91 to 100 of about 31,423 (169)

Non-Inversion Variants in Sporadic Hemophilia A Rarely Recur. [PDF]

Int J Mol Sci
Lin SY, Chen M, Chang SP, Ma GC, Lee DJ, Yan A, Hsieh HN, Shen MC.   +7 more
europepmc   +1 more source

Discordant fetal anomalies in monochorionic multiple pregnancies. [PDF]

Med Genet
Schuligoi H, Juch H, Klaritsch P.
europepmc   +1 more source

Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications. [PDF]

Int J Mol Sci
Kamlungkuea T, Traisrisilp K, Luewan S, Klangjorhor J, Wattanasirichaigoon D, Tongprasert F.   +5 more
europepmc   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]

Case Rep Genet
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang YH, Wen J, Bale A, Li P, Zhang H.   +10 more
europepmc   +1 more source

Studying Familial Bainbridge-Ropers Syndrome Due to a Novel <i>ASXL3</i> Germline Variant and Expanding the Clinical Spectrum. [PDF]

Children (Basel)
Mariano D, Petrone V, Madia F, Severino M, Basso L, Capra V, Vari MS, Marras A, Tantari G, d'Annunzio G.   +9 more
europepmc   +1 more source

A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]

Indian J Med Res
Bose C, Mondal S, Saha C, Sengupta N, Bhattacharyya NP, Mukhopadhyay S.   +5 more
europepmc   +1 more source

Preimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling. [PDF]

Hum Reprod
Vernimmen V, De Rycke M, Moutou C, Dreesen J, Blok MJ, van Minkelen R, Lauer-Zillhardt J, Verdyck P, Keymolen K, van Uum C, Homminga I, Brandts L, Stumpel CTRM, Coonen E, Heijligers M, van Zelst-Stams W, Zamani Esteki M, van den Wijngaard A, de Die-Smulders CEM, Paulussen ADC.   +19 more
europepmc   +1 more source

Prenatal Diagnosis of Sex Chromosome Aneuploidies: A Retrospective Study Using QF-PCR, SNP-Based Chromosomal Microarray Analysis, and NIPT. [PDF]

Genes (Basel)
Iordanescu II, Catana A, Barabas Cuzmici Z, Chelu P, Basangiu BF, Severin E, Militaru MS.   +6 more
europepmc   +1 more source

Sensitivity of HiFi long-read genome sequencing for difficult-to-detect pathogenic variants when applied to real-world clinical laboratory samples. [PDF]

Am J Hum Genet
Devaney JM, Chong JX, Lopes PC, Noya J, Berlyoung AS, Yusuff S, Lynch S, Brandon R, Hruska KS, Lochovsky L, Spangler J, McWalter K, Nykamp K, Poll SR, Stergachis AB, Greally J, Kruszka P, Dolzhenko E, Chen X, Robertson AV, Rowell WJ, Lake JA, Carroll A, Kueffner R, Eberle MA, Facio FM, Bamshad MJ, Johnson B.   +27 more
europepmc   +1 more source