E-LIB Suche - Ergebnisse für: Calabrese, Olga

1

The Approach to a Child with Dysmorphic Features: What the ..:

Ciancia, Silvia ; Madeo, Simona Filomena ; Calabrese, Olga.
Children. 11 (2024) 5 - p. 578 , 2024

2

#2684 DIAGNOSTIC YIELD OF A TARGETED GENE PANEL FOR MONOGEN..:

Giovanella, Silvia ; Poyatos Andújar, Antonio M ; Avila-Fernandez, Almudena...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1093/..

3

Knowledge and attitude of general pratictioners towards dir..:

Baroncini, Anna ; Calabrese, Olga ; Colotto, Marco...
Epidemiology, Biostatistics, and Public Health. 12 (2022) 4 - p. , 2022

Link: https://doi.org/10.2427/..

4

Prenatal genetic counselling: issues and perspectives for p..:

Lucci, Marco ; Astolfi, Gianni ; Bigoni, Stefania...
Epidemiology, Biostatistics, and Public Health. 11 (2022) 2 - p. , 2022

Link: https://doi.org/10.2427/..

5

Atypical, Composite, or Blended Phenotypes: How Different M..:

Rosina, Erica ; Pezzani, Lidia ; Pezzoli, Laura...
Genes. 13 (2022) 7 - p. 1275 , 2022

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

6

Townes-Brocks syndrome with craniosynostosis in two sibling:

Lugli, Licia ; Rossi, Cecilia ; Ceccarelli, Pier Luca...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104642 , 2022

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

7

Homozygous n.64C>T mutation in mitochondrial RNA-processing..:

Lugli, Licia ; Ciancia, Silvia ; Bertucci, Emma...
European Journal of Medical Genetics. 64 (2021) 2 - p. 104136 , 2021

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

8

Correspondence on "Disorder of sex development associated w..:

Lugli, Licia ; Pollazzon, Marzia ; Bigoni, Stefania...
American Journal of Medical Genetics Part A. 188 (2021) 1 - p. 382-383 , 2021

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

9

Correspondence on "Clinical spectrum of MTOR-related hypome..:

Resta, Nicoletta ; Calabrese, Olga ; Grossi, Valentina...
Genetics in Medicine. 23 (2021) 11 - p. 2223-2224 , 2021

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

10

Further delineation of BCAP31-linked intellectual disabilit..:

Whalen, Sandra ; Shaw, Marie ; Mignot, Cyril...
European Journal of Human Genetics. 29 (2021) 9 - p. 1405-1417 , 2021

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

11

Consensus based recommendations for diagnosis and medical m..:

Baldelli, Ilaria ; Baccarani, Alessio ; Barone, Chiara...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

12

Novel pathogenic TGFBR1 and SMAD3 variants identified after..:

Laterza, Domenico ; Ritelli, Marco ; Zini, Andrea...
European Journal of Medical Genetics. 62 (2019) 10 - p. 103727 , 2019

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

13

Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations ..:

Yilmaz, Rüstem ; Szakszon, Katalin ; Altmann, Anna...
American Journal of Medical Genetics Part A. 176 (2017) 1 - p. 187-193 , 2017

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

14

Complex rearrangement of the exon 6 genomic region among Op..:

Migliore, Chiara ; Athanasakis, Emmanouil ; Dahoun, Sophie...
European Journal of Medical Genetics. 56 (2013) 8 - p. 404-410 , 2013

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

15

Common and recurrent HPGD mutations in Caucasian individual..:

Diggle, Christine P. ; Carr, Ian M. ; Zitt, Emanuel...
Rheumatology. 49 (2010) 6 - p. 1056-1062 , 2010

Link: https://doi.org/10.1093/..