Maria Francesca Bedeschi

Author

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico ORCID

Also Known As

Bedeschi, Maria, Bedeschi, Maria Francesca, M BEDESCHI, M Bedeschi, M F Bedeschi, M. F. Bedeschi, M.F. Bedeschi, Maria Beatrice Michelis, Maria Bedeschi, Maria F Bedeschi

124

Publications

2.5K

Citations

H-Index

Concepts

All Affiliations

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico University of Milan Istituti di Ricovero e Cura a Carattere Scientifico Ospedale Maggiore Bambino Gesù Children's Hospital

About

Maria Francesca Bedeschi is an author at Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico specializing in medicine, genetics, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	17	21	1.1K
2	Public Health	4	4	108
3	Engineering	2	2	49
4	Social Sciences	2	2	86
5	Cell Biology	1	1	103

Maria Francesca Bedeschi

Publications

Citations

H-Index

Page 1

	Year	Citations
(Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, European Journal of Human Genetics Clinical DisordersGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology	2015	185
Agenesis of the Corpus Callosum: Clinical and Genetic Study in 63 Young Patients Maria Francesca Bedeschi, María Clara Bonaglia, Rita Grasso, Pediatric Neurology NeurologyCorpus CallosumGenetic StudyMedicineYoung Patients	2006	170
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development Sheila Unger, Maria W. Górna, Antony Le Béchec, The American Journal of Human Genetics Bone DiseaseDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2013	136
Moebius syndrome: clinical features, diagnosis, management and early intervention Odoardo Picciolini, Matteo Porro, Elisa Cattaneo, The Italian Journal of Pediatrics/Italian journal of pediatrics	2016	118
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Human Mutation ImmunodeficienciesGeneticsPathologyDisease Gene IdentificationKmt2d Target Genes	2014	103
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient Lucia Ballarati, Maria Paola Recalcati, Maria Francesca Bedeschi, European Journal of Medical Genetics ChromatinDevelopmental BiologyComplex Chromosomal RearrangementMendelian DisorderCytogenetics	2009	95
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies Eloisa Arbustini, Maurizia Grasso, Silvia Ansaldi, Human Mutation	2005	91
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients Angela Bentivegna, Donatella Milani, Cristina Gervasini, BMC Medical Genetics	2006	73
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder Pauline E. Schneeberger, Fanny Kortüm, Georg Christoph Korenke, Brain	2020	59
Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum Romina Romaniello, Susan Marelli, Roberto Giorda, Journal of Child Neurology NeuropsychologyCorticobasal DegenerationNeurological DisorderPathologyCorpus Callosum	2016	57

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