Results 161 to 170 of about 18,812 (235)

A Case Highlighting the Importance of Timely Intervention for a Male With AZFb + c Microdeletion. [PDF]

Case Rep Genet
Atodaria R, Abdelmasih R.
europepmc   +1 more source

Prenatal Diagnosis and Genotype-Phenotype Correlation in 8q21.11 Microdeletion Syndrome: A Case Report. [PDF]

Int Med Case Rep J
Libotte F, Margiotti K, Fabiani M, Mesoraca A, Giorlandino C.   +4 more
europepmc   +1 more source

Clinical Variability Including Non-Dilated Left Ventricular and Dilated Cardiomyopathy in a Pedigree With an Intragenic CTNNA3 Copy Number Variation. [PDF]

Clin Genet
Fusco C, Mastroianno S, Morlino S, Pracella R, Russo F, Bevere EML, Palumbo O, Di Stolfo G, Castori M.   +8 more
europepmc   +1 more source

A 350 kb <i>NEXMIF</i> Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome. [PDF]

Genes (Basel)
Benvenuto M, Costantino U, Palumbo P, Carella M, Castori M, d'Orsi G, Palumbo O.   +6 more
europepmc   +1 more source

Genetic Mapping of the 22q11.2 Deletion Syndrome (DiGeorge Syndrome) Microdeletion Types Revealed Novel Candidate Breakpoints. [PDF]

Genes (Basel)
Papageorgiou L, Nikolopoulou E, Koniari E, Hatziagapiou K, Chaniotis D, Beloukas A, Chrousos GP, Eliopoulos E, Thireou T.   +8 more
europepmc   +1 more source

2q24 microdeletion syndrome [PDF]

, 2020
openaire   +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

Residual risk of clinically significant copy number variations in fetuses with ultrasonographic soft markers following exclusion of non-invasive prenatal screening-detectable findings. [PDF]

Arch Gynecol Obstet
Liang Y, Zhou R, Liu T, Gao J, Xu Y, Huang M, Meng L, Huo H, Zhang Q, Wu Y, Xu Z, Wang Y.   +11 more
europepmc   +1 more source

Severity-dependent risk of chromosomal abnormalities in fetuses with short long bones: a 10-year cohort study. [PDF]

Hum Genomics
Huang Y, Ding H, Lu J, Wang T, Shi X, Huang C, Wu J.   +6 more
europepmc   +1 more source

Chromosome Microarray Analysis of 3832 Patients over 15 Years Confirms Genome-Wide Copy Number Variation in Patients with Developmental Disabilities Including Autism. [PDF]

Curr Issues Mol Biol
Chaval S, Tonk SS, Wilson GN, Tonk VS.
europepmc   +1 more source