Results 111 to 120 of about 4,368 (158)

Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report. [PDF]

J Med Case Rep
Katz M, Podgursky B, Li S, Zhang Q, Shapiro D, Pasternak M, Siddiqui N, Suer F, Xia Y.   +8 more
europepmc   +1 more source

Germline duplication of MYCN predisposes to childhood embryonal tumours. [PDF]

EBioMedicine
Taylor CA, May P, Stone TJ, Ahmed M, Chowdhury T, Tweddle DA, Wilson S, Hanscombe K, Hutchinson JC, Pickles JC, Sebire NJ, Jacques TS.   +11 more
europepmc   +1 more source

Prenatal diagnosis of a fetus with cri-du-chat syndrome accompanied by 18q duplication: a case description. [PDF]

Quant Imaging Med Surg
Song J, Tang Z, Lin X, Yang L.
europepmc   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier-Gorlin syndrome-7 using whole exome sequencing. [PDF]

Hum Genomics
Zhuang J, Huang N, Wang J, Chen C.
europepmc   +1 more source

Non-visualization of the fetal gallbladder with ultrasound in the second trimester in a Chinese cohort: prognosis and clinical consultation. [PDF]

BMC Pregnancy Childbirth
Ding H, Wang Y, He F, Wang Y, Zeng K, Zhang Z, Li J, Chen L.   +7 more
europepmc   +1 more source

Familial 22q11.2 Duplication/Deletion Syndrome: A Testament to the Long-Standing Clinical Utility of FISH. [PDF]

Clin Case Rep
Bryant LM, Hokanson R, Hickey SE, Zapanta B, Hunter J, Reshmi SC.   +5 more
europepmc   +1 more source

Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12). [PDF]

Front Genet
Chen JY, Cai MJ, Chen XL, Ge YS.
europepmc   +1 more source

Two Unrelated Families With Noncoding Duplications Upstream of MSX2 Refine the Critical Regulatory Region Likely Involved in Cranial Bone Development and a Cleidocranial Dysplasia-Like Phenotype. [PDF]

Hum Mutat
Yamada M, Cleghorn M, Krishnamurthy P, French T, Francis D, Kosaki K, Tan TY.   +6 more
europepmc   +1 more source

Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations. [PDF]

BMC Pregnancy Childbirth
Zhuang J, Fu W, Chen Y, Zhang N, Chen C.
europepmc   +1 more source