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Bedeschi, Maria Francesca
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1

Matrisome and Immune Pathways Contribute to Extreme Vascula..:

Liu, Delong ; Billington Jr, Charles J. ; Raja, Neelam...
Journal of the American Heart Association.  13 (2024)  3 - p. , 2024
Link: https://doi.org/10.1161/..
 
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2

Low‐grade parental gonosomal mosaicism in CHD2 siblings wit..:

Cogliati, Francesca ; Straniero, Letizia ; Rimoldi, Valeria...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Multidisciplinary follow-up in a patient with Morgagni hern..:

Capecchi, Ester ; Villa, Roberta ; Pini, Alessandro...
Italian Journal of Pediatrics.  50 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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4

Optical coherence tomography angiography findings in Willia..:

Nassisi, Marco ; Mainetti, Claudia ; Sperti, Andrea...
Graefe's Archive for Clinical and Experimental Ophthalmology.  262 (2023)  4 - p. 1131-1140 , 2023
Link: https://doi.org/10.1007/..
 
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5

Heterozygous rare variants in NR2F2 cause a recognizable mu..:

Ganapathi, Mythily ; Matsuoka, Leticia S. ; March, Michael...
European Journal of Human Genetics.  31 (2023)  10 - p. 1117-1124 , 2023
Link: https://doi.org/10.1038/..
 
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6

How pain affect real life of children and adults with achon..:

Onesimo, Roberta ; Sforza, Elisabetta ; Bedeschi, Maria Francesca...
European Journal of Medical Genetics.  66 (2023)  11 - p. 104850 , 2023
Link: https://doi.org/10.1016/..
 
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7

Chung–Jansen syndrome can mimic Cornelia de Lange syndrome:..:

Conti, Beatrice ; Rinaldi, Berardo ; Rimoldi, Martina...
American Journal of Medical Genetics Part A.  191 (2023)  6 - p. 1586-1592 , 2023
Link: https://doi.org/10.1002/..
 
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8

Comparison of first‐tier whole‐exome sequencing with a mult..:

Rosina, Erica ; Pezzani, Lidia ; Apuril, Erika...
Molecular Genetics & Genomic Medicine.  12 (2023)  1 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

Prenatal Clinical Findings in RASA1-Related Capillary Malfo..:

Coccia, Emanuele ; Valeri, Lara ; Zuntini, Roberta...
Genes.  14 (2023)  3 - p. 549 , 2023
Link: https://doi.org/10.3390/..
 
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10

Identification of bi‐allelic LFNG variants in three patient..:

Lecca, Mauro ; Bedeschi, Maria Francesca ; Izzi, Claudia...
Clinical Genetics.  104 (2023)  2 - p. 230-237 , 2023
Link: https://doi.org/10.1111/..
 
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11

A biallelic variant in COX18 cause isolated Complex IV defi..:

Ronchi, Dario ; Garbellini, Manuela ; Magri, Francesca...
European Journal of Human Genetics.  31 (2023)  12 - p. 1414-1420 , 2023
Link: https://doi.org/10.1038/..
 
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12

Pitfalls of whole exome sequencing in undefined clinical co..:

Moresco, Giada ; Rondinone, Ornella ; Mauri, Alessia...
Genes & Genomics.  , 2022
Link: https://doi.org/10.1007/..
 
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13

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 5912 , 2022
Link: https://doi.org/10.3390/..
 
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14

Congenital diaphragmatic hernia in Coffin Siris syndrome: F..:

Rimoldi, Martina ; Rinaldi, Berardo ; Villa, Roberta...
American Journal of Medical Genetics Part A.  191 (2022)  2 - p. 605-611 , 2022
Link: https://doi.org/10.1002/..
 
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15

Prenatal overgrowth and polydramnios: Would you think about..:

Beltrami, Benedetta ; Cerasani, Jacopo ; Consales, Alessandra...
Clinical Case Reports.  10 (2022)  8 - p. , 2022
Link: https://doi.org/10.1002/..
 
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