Risultati ricerca pubblicazioni

Torna alla Home Page delle pubblicazioni

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2020

Pascolini G., Valiante M., Bottillo I., Laino L., Fleischer N., Ferraris A., Grammatico P.

Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2020

Mastromoro G., Capalbo A., Guido C. A., Torres B., Fabbretti M., Traversa A., Giancotti A., Ventriglia F., Bernardini L., Spalice A., Pizzuti A.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2018

Unolt Marta, Barry Jessica, Digilio Maria Cristina, Marino Bruno, Bassett Anne, Oechslin Erwin, Low David W., Belasco Jean B., Kallish Staci, Sullivan Kathleen, Zackai Elaine H., McDonald-McGinn Donna M.

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2021

Mastromoro Gioia, Guadagnolo Daniele, Giancotti Antonella, Grazia Di Gregorio Maria, Marchionni Enrica, Vena Flaminia, Romana Lepri Francesca, Bargiacchi Lavinia, Ventriglia Flavia, Di Gioia Cira Rosaria Tiziana, Novelli Antonio, Pizzuti Antonio

CATALOGO IRIS SAPIENZA

Anno

2021 (1) Apply 2021 filter
2020 (2) Apply 2020 filter
2018 (1) Apply 2018 filter

Tipo pubblicazione

01 Pubblicazione su rivista (4) Apply 01 Pubblicazione su rivista filter

Rivista

(-) Remove EUROPEAN JOURNAL OF MEDICAL GENETICS filter EUROPEAN JOURNAL OF MEDICAL GENETICS

Book

Keywords

6q25.3 microdeletion (1) Apply 6q25.3 microdeletion filter
7p22.3 deletion (1) Apply 7p22.3 deletion filter
22q11.2 deletion syndrome (1) Apply 22q11.2 deletion syndrome filter
ARID1B gene (1) Apply ARID1B gene filter
Coffin-Siris syndrome (CSS) (1) Apply Coffin-Siris syndrome (CSS) filter
genetics (1) Apply genetics filter
Genetics (clinical) (1) Apply Genetics (clinical) filter
genotype-phenotype correlations (1) Apply genotype-phenotype correlations filter
Hydrops (1) Apply Hydrops filter
Intellectual disability (ID) (1) Apply Intellectual disability (ID) filter
Lymphatic anomalies (1) Apply Lymphatic anomalies filter
Lymphatic dysplasia (1) Apply Lymphatic dysplasia filter
mosaic deletion (1) Apply mosaic deletion filter
Nicolaides-Baraitser syndrome (NCBRS) (1) Apply Nicolaides-Baraitser syndrome (NCBRS) filter
PIEZO1 (1) Apply PIEZO1 filter
Primary lymphatic dysplasia (1) Apply Primary lymphatic dysplasia filter
Primary lymphedema (1) Apply Primary lymphedema filter
SNX8 (1) Apply SNX8 filter
TBX1 (1) Apply TBX1 filter
tetralogy of Fallot (1) Apply tetralogy of Fallot filter
VEGFR3 (1) Apply VEGFR3 filter