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Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile men
(Soc Brasil GeneticaRibeirao PretBrasil, 2004)
Molecular Characterization of a Patient With 3p Deletion Syndrome and a Review of the Literature
(Wiley-Liss, Inc., 2015)
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
(Thieme Gruppe, 2016)
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical ...
Absence of 12q21.2rv92 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
(Wiley-Blackwell, 2003-06-01)
Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000,2002]. the patients did not have the classical CFC phenotype and presented other ...
A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic state
(ElsevierAmsterdam, 2012)