A novel microdeletion involving the 13q31. 3–q32. 1 region in a patient with normal intelligence
JM Valdes-Miranda, JR Soto-Alvarez… - European journal of …, 2014 - Elsevier
Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance
with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with …
with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with …
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
I Bestetti, A Sironi, I Catusi, M Mariani, D Giardino… - Molecular …, 2018 - Springer
Background The 13q deletion syndrome is a rare chromosome disorder associated with
wide phenotypic spectrum, which is related to size and location of the deleted region and …
wide phenotypic spectrum, which is related to size and location of the deleted region and …
İnfertilite tanısı alan çiftlerde polimorfik varyant kabul edilen kromozom değişikliklerinin değerlendirilmesi
YM Şener - 2022 - acikerisim.aku.edu.tr
İnfertilite, kişinin üreme kapasitesinin bozulması olarak tanımlanan bir hastalıktır.
İnfertilitenin patogenezinde genetik faktörlerin etkisi olduğu bilinmektedir. Bu noktada …
İnfertilitenin patogenezinde genetik faktörlerin etkisi olduğu bilinmektedir. Bu noktada …
Les manifestations ophtalmologiques dans le syndrome de délétion du bras long du chromosome 13: à propos d'un cas
S Iferkhass, N Elhalouat, H Boui, O Aziz, B Adil… - Journal Français d' …, 2019 - Elsevier
Discussion La délétion du bras long du chromosome 13 est une pathologie génétique rare
[1]. Les délétions du centromère à 13q32 ou toute délétion incluant la bande 13q32 sont …
[1]. Les délétions du centromère à 13q32 ou toute délétion incluant la bande 13q32 sont …