Concepedia

Manuela Priolo

MP

Statistics

Publications

30

Citations

1.4K

H-Index

20

Active since

1995

Affiliations

Azienda ospedaliera "Bianchi-Melacrino-Morelli"(Current)

Istituti di Ricovero e Cura a Carattere Scientifico

Bambino Gesù Children's Hospital

Istituto Giannina Gaslini

Università Cattolica del Sacro Cuore

Manuela Priolo is an author at Azienda ospedaliera "Bianchi-Melacrino-Morelli" specializing in genetics, human genetics, and molecular genetics.

Publications per year

1995–2024

30

Publications

30

Ectodermal dysplasias: a new clinical-genetic classification

Manuela Priolo · Journal of Medical Genetics · 2001 · 197 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

Christian R. Marshall, Edwin J. Young, Ariel M. Pani et al. · The American Journal of Human Genetics · 2008 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

The physical map of the human RET proto-oncogene.

Barbara Pasini, Robert M.W. Hofstra, Ling Yin et al. · PubMed · 1995 · 96 citations

Medicine, Genetics, Molecular Genetics +12

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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