Concepedia
Statistics
Publications
26
Citations
847
H-Index
16
Active since
1996
Affiliations
Bambino Gesù Children's Hospital(Current)
Istituti di Ricovero e Cura a Carattere Scientifico
Università Cattolica del Sacro Cuore
Sapienza University of Rome
University of Turin
Marina Macchiaiolo is an author at Bambino Gesù Children's Hospital specializing in life sciences, genetics, and human genetics.
Publications per year
1996–2025
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome
Alessandro Mussa, Silvia Russo, Agostina De Crescenzo et al. · European Journal of Human Genetics · 2015 · 189 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
Growth hormone excess in children with neurofibromatosis type‐1 and optic glioma
Paola Cambiaso, Stefania Galassi, M. Palmiero et al. · American Journal of Medical Genetics Part A · 2017 · 56 citations
Medicine, Endocrinology, Pediatrics +16
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Theodore G. Drivas, Dong Li, Divya Nair et al. · European Journal of Human Genetics · 2020 · 51 citations · Full text
Life Sciences, Genetics, Molecular Genetics +4
Nomenclature and definition in asymmetric regional body overgrowth
Jennifer M. Kalish, Leslie G. Biesecker, Frédéric Brioude et al. · American Journal of Medical Genetics Part A · 2017 · 49 citations · Full text
Life Sciences, Developmental Biology, Genetics +15
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 49 citations · Full text
Medicine, Genetics, Molecular Genetics +13
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