E-LIB Suche - Ergebnisse für: Stangoni, Gabriela

1

Intestinal lymphangiectasia in a 3-month-old girl: A case r..:

Fattorusso, Antonella ; Pieri, Elena Sofia ; Dell'Isola, Giovanni Battista...
Medicine. 99 (2020) 27 - p. e20995 , 2020

2

A patient with novelMBOAT7variant: The cerebellar atrophy i..:

Farnè, Marianna ; Tedesco, Giovanna M. ; Bedetti, Chiara...
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2377-2383 , 2020

Link: https://doi.org/10.1002/..

3

Schilbach–Rott syndrome associated with 9q22.32q22.33 dupli..:

Prontera, Paolo ; Rogaia, Daniela ; Sallicandro, Ester...
European Journal of Human Genetics. 27 (2019) 8 - p. 1260-1266 , 2019

Link: https://doi.org/10.1038/..

4

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intro..:

Pacitto, Alessandra ; Prontera, Paolo ; Stangoni, Gabriela...
International Journal of Molecular Sciences. 20 (2019) 3 - p. 527 , 2019

Link: https://doi.org/10.3390/..

5

Expanding the Clinical Spectrum of Sotos Syndrome in a Pati..:

Mencarelli, Annalisa ; Prontera, Paolo ; Mencarelli, Amedea...
International Journal of Molecular Sciences. 19 (2018) 10 - p. 3189 , 2018

Link: https://doi.org/10.3390/..

6

Report of a Novel SHOX Missense Variant in a Boy With Short..:

Lucchetti, Laura ; Prontera, Paolo ; Mencarelli, Amedea...
Frontiers in Endocrinology. 9 (2018) - p. , 2018

Link: https://doi.org/10.3389/..

7

Mutations in the Neuroblastoma Amplified Sequence gene in a..:

Palagano, Eleonora ; Zuccarini, Giulia ; Prontera, Paolo...
Bone. 114 (2018) - p. 125-136 , 2018

Link: https://doi.org/10.1016/..

8

Juvenile Moyamoya and Craniosynostosis in a Child with Dele..:

Prontera, Paolo ; Rogaia, Daniela ; Mencarelli, Amedea...
International Journal of Molecular Sciences. 18 (2017) 9 - p. 1998 , 2017

Link: https://doi.org/10.3390/..

9

Autosomal Dominant PTH Gene Signal Sequence Mutation in a F..:

Cinque, Luigia ; Sparaneo, Angelo ; Penta, Laura...
The Journal of Clinical Endocrinology & Metabolism. 102 (2017) 11 - p. 3961-3969 , 2017

Link: https://doi.org/10.1210/..

10

Epileptogenic Brain Malformations and Mutations in Tubulin ..:

Mencarelli, Annalisa ; Prontera, Paolo ; Stangoni, Gabriela...
International Journal of Molecular Sciences. 18 (2017) 11 - p. 2273 , 2017

Link: https://doi.org/10.3390/..

11

A novel MED12 mutation: Evidence for a fourth phenotype:

Prontera, Paolo ; Ottaviani, Valentina ; Rogaia, Daniela...
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2377-2382 , 2016

Link: https://doi.org/10.1002/..

12

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patie..:

Prontera, Paolo ; Isidori, Ilenia ; Mencarini, Valeria...
Public Health Genomics. 19 (2016) 6 - p. 336-341 , 2016

Link: https://www.jstor.org/st..

13

A New HomozygousIGF1RVariant Defines a Clinically Recogniza..:

Prontera, Paolo ; Micale, Lucia ; Verrotti, Alberto...
Human Mutation. 36 (2015) 11 - p. 1043-1047 , 2015

Link: https://doi.org/10.1002/..

14

Succinate‐CoA ligase deficiency due to mutations in SUCLA2 ..:

Carrozzo, Rosalba ; Verrigni, Daniela ; Rasmussen, Magnhild...
Journal of Inherited Metabolic Disease. 39 (2015) 2 - p. 243-252 , 2015

Link: https://doi.org/10.1007/..

15

Characterization of 14 novel deletions underlying Rubinstei..:

Rusconi, Daniela ; Negri, Gloria ; Colapietro, Patrizia...
Human Genetics. 134 (2015) 6 - p. 613-626 , 2015

Link: https://doi.org/10.1007/..