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Baffico, A. Maria
39
results:
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Online (39)
Mediatypes
Articles (Online) (20)
OpenAccess-fulltext (19)
Languages
english (33)
spanish (6)
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?
1
SHOX deficiency in children with growth impairment: evaluat..:
Vannelli, Silvia
;
Baffico, Maria
;
Buganza, Raffaele
...
Italian Journal of Pediatrics. 46 (2020) 1 - p. , 2020
Link:
https://doi.org/10.1186/..
?
2
Duplications upstream and downstream of SHOX identified as ..:
Bunyan, David J.
;
Baffico, Maria
;
Capone, Lucia
...
American Journal of Medical Genetics Part A. 170 (2015) 4 - p. 949-957 , 2015
Link:
https://doi.org/10.1002/..
?
3
Novel c.358C>T mutation ofSOX9gene in prenatal diagnosis of..:
Barone, Chiara
;
Bartoloni, Giovanni
;
Baffico, A. Maria
...
Congenital Anomalies. 54 (2014) 3 - p. 193-194 , 2014
Link:
https://doi.org/10.1111/..
?
4
Characterization of a Disease-associated Mutation Affecting..:
Faà, Valeria
;
Incani, Federica
;
Meloni, Alessandra
...
Journal of Biological Chemistry. 284 (2009) 44 - p. 30024-30031 , 2009
Link:
https://doi.org/10.1074/..
?
5
Germline mosaicism in achondroplasia detected in sperm DNA ..:
Natacci, Federica
;
Baffico, Maria
;
Cavallari, Ugo
...
American Journal of Medical Genetics Part A. 146A (2008) 6 - p. 784-786 , 2008
Link:
https://doi.org/10.1002/..
?
6
Prenatal ultrasound diagnosis of a case of Pfeiffer syndrom..:
Nazzaro, Alfredo
;
Monica, Matteo Della
;
Lonardo, Fortunato
...
Prenatal Diagnosis. 24 (2004) 11 - p. 918-922 , 2004
Link:
https://doi.org/10.1002/..
?
7
Fontaine-farriaux craniosynostosis: Second report in the li..:
Priolo, Manuela
;
De Toni, Teresina
;
Baffico, Maria
...
American Journal of Medical Genetics. 100 (2001) 3 - p. 214-218 , 2001
Link:
https://doi.org/10.1002/..
?
8
Meier‐Gorlin syndrome (ear–patella–short stature syndrome) ..:
Cohen, Amnon
;
Mulas, Roberta
;
Seri, Marco
...
American Journal of Medical Genetics. 107 (2001) 1 - p. 48-51 , 2001
Link:
https://doi.org/10.1002/..
?
9
Occurrence of thanatophoric dysplasia type I (R248C) and hy..:
Camera, Gianni
;
Baldi, Maurizia
;
Strisciuglio, Giuseppe
...
American Journal of Medical Genetics. 104 (2001) 4 - p. 277-281 , 2001
Link:
https://doi.org/10.1002/..
?
10
Pfeiffer syndrome type 2 associated with a single amino aci..:
Priolo, Manuela
;
Lerone, Margherita
;
Baffico, Maria
...
Clinical Genetics. 58 (2000) 1 - p. 81-83 , 2000
Link:
https://doi.org/10.1034/..
?
11
Sonographic and molecular diagnosis of thanatophoric dyspla..:
De Biasio, Pierangela
;
Prefumo, Federico
;
Baffico, Maria
...
Prenatal Diagnosis. 20 (2000) 10 - p. 835-837 , 2000
Link:
https://doi.org/10.1002/..
?
12
An unusual radiological finding in thanatophoric dysplasia ..:
Camera, Gianni
;
Baldi, Maurizia
;
Baffico, Maria
.
American Journal of Medical Genetics. 71 (1997) 1 - p. 122-123 , 1997
Link:
https://doi.org/10.1002/..
?
13
The L467F-F508del Complex Allele Hampers Pharmacological Re..:
Sondo, Elvira
;
Cresta, Federico
;
Pastorino, Cristina
...
International Journal of Molecular Sciences. 23 (2022) 6 - p. 3175 , 2022
Link:
https://doi.org/10.3390/..
?
14
Variants in the 5′UTR reduce SHOX expression and contribute..:
Babu, Deepak
;
Vannelli, Silvia
;
Fanelli, Antonella
...
European Journal of Human Genetics. 29 (2020) 1 - p. 110-121 , 2020
Link:
https://doi.org/10.1038/..
?
15
Skeletal dysplasia with bowing long bones: Proposed flowcha..:
Tonni, Gabriele
;
Palmisano, Marcella
;
Lituania, Mario
...
Taiwanese Journal of Obstetrics and Gynecology. 55 (2016) 6 - p. 771-776 , 2016
Link:
https://doi.org/10.1016/..
1-15