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Turolla, Licia
39  results:
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1

Audiological Phenotypes of Connexin Gene Mutation Patterns:..:

Franz, Leonardo ; Incognito, Alessandro ; Gallo, Chiara...
Children.  11 (2024)  2 - p. 194 , 2024
Link: https://doi.org/10.3390/..
 
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2

Specifications and validation of the ACMG/AMP criteria for ..:

Leone, Maria Pia ; Morlino, Silvia ; Nardella, Grazia...
Human Genetics.  142 (2023)  6 - p. 785-808 , 2023
Link: https://doi.org/10.1007/..
 
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3

The fate of orally administered sialic acid: First insights..:

Tran, Christel ; Turolla, Licia ; Ballhausen, Diana...
Molecular Genetics and Metabolism Reports.  28 (2021)  - p. 100777 , 2021
Link: https://doi.org/10.1016/..
 
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4

Editorial: The Skin in Cancer Predisposition Syndromes:

Turolla, Licia ; Mammi, Isabella
Frontiers in Medicine.  8 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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5

A new case of TAR syndrome confirms the importance of nonco..:

Morgan, Anna ; Dipresa, Savina ; Turolla, Licia...
Human Mutation.  42 (2020)  2 - p. 213-215 , 2020
Link: https://doi.org/10.1002/..
 
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6

Characterization of intellectual disability and autism como..:

Aspromonte, Maria C. ; Bellini, Mariagrazia ; Gasparini, Alessandra...
Human Mutation.  41 (2020)  6 - p. 1183-1183 , 2020
Link: https://doi.org/10.1002/..
 
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7

Characterization of intellectual disability and autism como..:

Aspromonte, Maria C. ; Bellini, Mariagrazia ; Gasparini, Alessandra...
Human Mutation.  40 (2019)  9 - p. 1346-1363 , 2019
Link: https://doi.org/10.1002/..
 
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8

FXS-Like Phenotype in Two Unrelated Patients Carrying a Met..:

Fernández, Esperanza ; Gennaro, Elena ; Pirozzi, Filomena...
Frontiers in Genetics.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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9

Erratum: Corrigendum: NANS-mediated synthesis of sialic aci..:

van Karnebeek, Clara D M ; Bonafé, Luisa ; Wen, Xiao-Yan...
Nature Genetics.  49 (2017)  6 - p. 969-969 , 2017
Link: https://doi.org/10.1038/..
 
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10

NANS-mediated synthesis of sialic acid is required for brai..:

van Karnebeek, Clara D M ; Bonafé, Luisa ; Wen, Xiao-Yan...
Nature Genetics.  48 (2016)  7 - p. 777-784 , 2016
Link: https://doi.org/10.1038/..
 
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11

Prenatal phenotype of Williams–Beuren syndrome and of the r..:

Marcato, Livia ; Turolla, Licia ; Pompilii, Eva...
Clinical Case Reports.  2 (2014)  2 - p. 25-32 , 2014
Link: https://doi.org/10.1002/..
 
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12

Three cases with de novo 6q imbalance and variable prenatal..:

Grati, Francesca R. ; Lalatta, Faustina ; Turolla, Licia...
American Journal of Medical Genetics Part A.  136A (2005)  3 - p. 254-258 , 2005
Link: https://doi.org/10.1002/..
 
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13

Prenatal testing in a fetus at risk for autosomal dominant ..:

Turco, Alberto E. ; Peissel, Bernard ; Rossetti, Sandro...
American Journal of Medical Genetics.  47 (1993)  8 - p. 1225-1230 , 1993
Link: https://doi.org/10.1002/..
 
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14

Clinical anophthalmia: An epidemiological study in Northeas..:

Clementi, Maurizio ; Turolla, Licia ; Mammi, Isabella.
Teratology.  46 (1992)  6 - p. 551-553 , 1992
Link: https://doi.org/10.1002/..
 
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15

Apparent CHARGE association and chromosome anomaly: Chance ..:

Clementi, Maurizio ; Tenconi, Romano ; Turolla, Licia...
American Journal of Medical Genetics.  41 (1991)  2 - p. 246-250 , 1991
Link: https://doi.org/10.1002/..
 
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