M. Marinelli

发表

Early detection (9+6 weeks) of cardiac failure in a fetus diagnosed as Turner syndrome by 2D transvaginal ultrasound‐guided coelocentesis

C. De Felice, A. Ventura, G. Tonni, 2009, Journal of clinical ultrasound : JCU.

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

M. Mussini, L. Garavelli, R. Pascarella, 2016, Molecular Syndromology.

Prenatal Diagnosis of Fetal Trisomy 5 Mosaicism with Congenital Pulmonary Airway Malformation Type 3: A Case Report

G. Tonni, M. Bonasoni, G. Comitini, 2020, Fetal and pediatric pathology.

Unexpected results in the constitution of small supernumerary marker chromosomes.

T. Liehr, O. Zuffardi, G. Arrigo, 2012, European journal of medical genetics.

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies

S. Bernasconi, L. Garavelli, O. Zuffardi, 2018, Italian Journal of Pediatrics.

Mosaic Trisomy 12: Prenatal Diagnosis at Amniocentesis and Molecular Genetic Analysis on Fetal Tissues

G. Tonni, G. Comitini, P. Bonasoni, 2020, Fetal and pediatric pathology.

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

A. Bayat, H. Stewart, K. Lachlan, 2020, American journal of medical genetics. Part A.

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

M. Tartaglia, E. Agolini, L. Garavelli, 2021, Genes.

Dermatologic Features in Pallister–Killian Syndrome and their Importance to the Diagnosis

L. Garavelli, F. Franchi, S. Amarri, 2007, Pediatric dermatology.

Workload measurement for molecular genetics laboratory: A survey study

Alessandra Ferlini, Paola Rimessi, Marina Grasso, 2018, PloS one.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

L. Garavelli, T. Grimaldi, A. Superti-Furga, 2021, Genes.

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

L. Garavelli, A. Superti-Furga, A. Ammenti, 2006, Genetic counseling.

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation

C. Longo, S. Piana, M. Tartaglia, 2023, Frontiers in genetics.

Contents Vol. 7, 2016

M. Mussini, M. Poot, Siulan Vendramini-Pittoli, 2016, Molecular Syndromology.