Results 141 to 150 of about 18,812 (235)

Prenatal diagnosis and genetic counseling of a <i>de novo</i> 16q24.3 microdeletion in a Chinese family. [PDF]

J Int Med Res
Wu W, Zuo Y, Jin J.
europepmc   +1 more source

DDX3Y loss-of-function variant in AZFa-like non-obstructive azoospermia highlights gaps in current Y-chromosome microdeletion testing. [PDF]

Reprod Fertil
Abou F, Waldenberg N, Kravat S, Gershoni M, Kleiman SE, Steiner N, Zeadna A, Bar G, Barel O, Dekalo S, Parvari R, Barak S.   +11 more
europepmc   +1 more source

Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report. [PDF]

Cureus
Safar DH, Attaa ZF, Atieh F, Jadah RHSH.
europepmc   +1 more source

Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study. [PDF]

Appl Clin Genet
Miller DC, Chawla D, Pierson S, Johansen Taber K.   +3 more
europepmc   +1 more source

Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history. [PDF]

Rev Paul Pediatr
Moraes NM, Nunes MR, Mergener R, Silveira AKBD, Peruzzo HF, Nascimento LPC, Riegel M, Zen PRG.   +7 more
europepmc   +1 more source

Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study. [PDF]

Front Pediatr
Zhuang J, Huang N, Chen W, Chen Y.
europepmc   +1 more source

Genetic diagnosis in fetuses with biliary tract system abnormalities: a meta-analysis and systematic review. [PDF]

BMC Pregnancy Childbirth
Cao H, Qian Y, Zhang Z.
europepmc   +1 more source

Preimplantation Genetic Testing for Cornelia de Lange Syndrome with Low-Level Maternal Gonadal Mosaicism for a Sub-Megabase Deletion in China. [PDF]

Appl Clin Genet
Meng L, Wang Y, Zhang J, Zhou R, Wang X, Qiao F, Zhang Q, Wan C, Jiao S, Hu P, Xu Z.   +10 more
europepmc   +1 more source

Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review. [PDF]

Front Genet
Guan S, Wang J, Liu Z, Qi Y, Sun X, Jiang K, Lin S.   +6 more
europepmc   +1 more source

<i>All-in-one</i> exome sequencing approach for genetic testing of unexplained premature ovarian insufficiency. [PDF]

Hum Reprod Open
Valkna A, Kikas T, Jakovlev Ü, Mõttus O, Dutta A, Erlang K, Punab M, Rull K, Laan M.   +8 more
europepmc   +1 more source