Combined <scp>NGS</scp> Approaches Identify Mutations in the Intraflagellar Transport Gene <i>IFT140</i> in Skeletal Ciliopathies with Early Progressive Kidney Disease

Miriam Schmidts, Valeska Frank, Tobias Eisenberger, +21

Human Mutation

Skeletal CiliopathiesGeneticsPathologyMolecular GeneticsDisease Gene Identification +15

Dysfunctional telomeres in primary cells from Fanconi anemia FANCD2 patients

Ivana Joksić, Dragana Vujić, Marija Guć‐Šćekić, +9

Genome Integrity

Increased oxidative stress and cytokinesis-block micronucleus cytome assay parameters in pregnant women with gestational diabetes mellitus and gestational arterial hypertension

Mina Toljić, Amira Egić, Jelena Munjas, +5

Reproductive Toxicology

HypertensionGestational Arterial HypertensionPhysiologyDiabetesGynecology +11

Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations

Iva Milacic, Miroljub Barać, Tatjana Milenković, +10

Journal of Endocrinological Investigation

Adrenal GlandMolecular Genetic StudyCongenital Adrenal HyperplasiaGenetic DisorderGenetics +8

Substitution rate and natural selection in parvovirus B19

Gorana Stamenković, Valentina Ćirković, Marina Šiljić, +4

Scientific Reports

Improved diagnostic accuracy by using secondary ultrasound markers in the first‐trimester screening for trisomies 21, 18 and 13 and Turner syndrome

Nataša Karadžov Orlić, Amira Egić, Zagorka Milovanović, +6

Prenatal Diagnosis

A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Jasmin Beygo, Ivana Joksić, Tim M. Strom, +6

European Journal of Human Genetics

Causes LossDevelopmental BiologyGenetic DisorderMedicineGenetics +6

Long-term Culture of EBV-induced Human Lymphoblastoid Cell Lines Reveals Chromosomal Instability

Marianne Volleth, Martin Zenker, Ivana Joksić, +1

Journal of Histochemistry & Cytochemistry

Placenta-specific plasma miR518b is a potential biomarker for preeclampsia

Jelena Munjas, Miron Sopić, Ivana Joksić, +7

Clinical Biochemistry

GeneticsGynecologyMaternal HealthPregnancyPlacental Disease +7

Outcomes and special techniques for treatment of penile amputation injury

Miroslav L. Djordjević, Marta Bižić, Borko Stojanović, +6

Injury

AmputationLimb ReconstructionHand TraumaLower Extremity WoundTrauma Surgery +8