A. Elmakky

A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome.

C. Falcinelli, A. Percesepe, A. Elmakky, 2014, European Journal of Medical Genetics.

Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans

A. Percesepe, A. Elmakky, I. Stanghellini, 2015, Current genomics.

Matrix Metalloproteinase-3 mRNA: A Promising Peripheral Blood Marker for Diagnosis of Endometriosis

C. Zucchini, P. de Sanctis, L. Valvassori, 2010, Gynecologic and Obstetric Investigation.

Post-operative use of oral contraceptive pills for prevention of anatomical relapse or symptom-recurrence after conservative surgery for endometriosis.

A. Elmakky, R. Seracchioli, M. Mabrouk, 2009, Human reproduction.

Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic.

S. Bernasconi, P. Ferrari, G. D. Di Gennaro, 2013, Birth defects research. Part A, Clinical and molecular teratology.

Down syndrome biochemical markers and screening for preeclampsia at first and second trimester: correlation with the week of onset and the severity

Hye-Sun Jun, N. Rizzo, A. Farina, 2008, Prenatal diagnosis.

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review

L. Story, A. Elmakky, F. Smith, 2021, BMC Medical Genomics.

Pre- and post-natal growth in two sisters with 3-M syndrome.

C. Neuhaus, A. Percesepe, A. Elmakky, 2016, European journal of medical genetics.

Performance of peripheral (serum and molecular) blood markers for diagnosis of endometriosis

C. Zucchini, P. de Sanctis, L. Valvassori, 2012, Archives of Gynecology and Obstetrics.

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review

L. Story, A. Elmakky, F. Smith, 2021, BMC medical genomics.