Suchergebnisse - "Avendaño, Andrea"

PubPharm (23)

1

A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1

enthalten in: Journal of pediatric genetics | 2023

von Cammarata-Scalisi, F. | Matysiak, U. | Willoughby, C. | +8

2

Next generation sequencing panel target genes : possible diagnostic tool for ectodermal dysplasia related diseases

enthalten in: Italian journal of dermatology and venereology | 2023

von Callea, M. | Bellacchio, E. | Cammarata Scalisi, F. | +15

3

An updated examination of the perception of barriers for pharmacogenomics implementation and the usefulness of drug/gene pairs in Latin America and the Caribbean

enthalten in: Frontiers in pharmacology | 2023

von Salas-Hernández, A. | Galleguillos, M. | Carrasco, M. | +62

4

5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela

enthalten in: Annals of human genetics | 2020

von Avendaño, A. | González-Coira, M. | Paradisi, I. | +4

5

5α‐Reductase type 2 deficiency in families from an isolated Andean population in Venezuela

enthalten in: Annals of Human Genetics | 2020

von Avendaño, A. | González‐Coira, M. | Paradisi, I. | +4

6

Novel clinical features associated with Clouston syndrome

enthalten in: International journal of dermatology | 2019

von Cammarata-Scalisi, F. | Rinelli, M. | Pisaneschi, E. | +6

7

Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays

enthalten in: Archivos argentinos de pediatria | 2019

von Cammarata-Scalisi, F. | Blanco Lago, R. | Barruz Galián, P. | +6

8

Clinical, biochemical and molecular findings of propionic acidemia

enthalten in: Archivos argentinos de pediatria | 2019

von Cammarata-Scalisi, F. | Yen-Hui, C. | Tze-Tze, L. | +4

9

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

enthalten in: Molecular syndromology | 2019

von Cammarata-Scalisi, F. | Matysiak, U. | Velten, T. | +5

10

Clinical and genetic findings of two cases with Apert syndrome

enthalten in: Boletin medico del Hospital Infantil de Mexico | 2019

von Cammarata-Scalisi, F. | Yilmaz, E. | Callea, M. | +3