E-LIB Suche - Ergebnisse für: Cianci, Paola

1

SMC1A epilepsy syndrome: clinical data from a large interna..:

Gibellato, Elisabetta ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

2

Hand Defects: An Isolated Anomaly Or a Syndromic Disease?:

, In: Pediatric Hand Surgery,

Selicorni, Angelo ; Cianci, Paola ; Tajè, Silvia. - p. 29-41 , 2023

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

3

Celiac disease prevalence and predisposing‐HLA in a cohort ..:

Ghisleni, Cecilia ; Parma, Barbara ; Cianci, Paola...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 84-89 , 2022

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

4

Burden of care in families of patients with rare genetic di..:

Moretti, Alex ; Cianci, Paola ; De Paoli, Anita...
European Journal of Medical Genetics. 64 (2021) 7 - p. 104230 , 2021

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

5

Williams-Beuren Syndrome and celiac disease: A real associa..:

Pangallo, Elisabetta ; Parma, Barbara ; Mariani, Milena...
European Journal of Medical Genetics. 63 (2020) 9 - p. 103999 , 2020

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

6

Pulmonary function in Williams–Beuren syndrome: Spirometric..:

Pangallo, Elisabetta ; Cianci, Paola ; Favuzza, Filippo...
American Journal of Medical Genetics Part A. 185 (2020) 2 - p. 390-396 , 2020

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

7

Complex nutritional deficiencies in a large cohort of Itali..:

Parma, Barbara ; Cianci, Paola ; Decimi, Valentina...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2094-2101 , 2020

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

8

Nissen fundoplication in Cornelia de Lange syndrome spectru..:

Parma, Barbara ; Cianci, Paola ; Mariani, Milena...
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1697-1703 , 2020

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

9

Children with special health care needs attending emergency..:

on behalf of the Italian Society of Pediatrics (SIP) ; Cianci, Paola ; D'Apolito, Valeria...
Italian Journal of Pediatrics. 46 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

10

Anthropometric characteristics of newborns with Prader–Will..:

Salvatoni, Alessandro ; Moretti, Alex ; Grugni, Graziano...
American Journal of Medical Genetics Part A. 179 (2019) 10 - p. 2067-2074 , 2019

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

11

Subcutaneous immunoglobulin in infantile chronic inflammato..:

Cianci, Paola ; Salvatore, Silvia ; Moretti, Alex...
Journal of Pediatric Neurosciences. 14 (2019) 1 - p. 38 , 2019

Link: https://doi.org/10.4103/..

12

Acute myeloid leukemia in Baraitser–Winter cerebrofrontofac..:

Cianci, Paola ; Fazio, Grazia ; Casagranda, Sara...
American Journal of Medical Genetics Part A. 173 (2016) 2 - p. 546-549 , 2016

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

13

14q32.3-qter trisomic segment: a case report and literature..:

Villa, Nicoletta ; Scatigno, Agnese ; Redaelli, Serena...
Molecular Cytogenetics. 9 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

14

"Gestalt diagnosis" for children with suspected genetic syn..:

Cianci, Paola ; Selicorni, Angelo
Italian Journal of Pediatrics. 41 (2015) S2 - p. , 2015

Link: https://doi.org/10.1186/..

15

Coffin–Siris and Nicolaides–Baraitser syndromes are a commo..:

Mari, Francesca ; Marozza, Annabella ; Mencarelli, Maria Antonietta...
Brain and Development. 37 (2015) 5 - p. 527-536 , 2015

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