E-LIB Suche - Ergebnisse für: Bacchelli, Chiara

1

Autosomal Dominant STAT6 Gain of Function Causes Severe Ato..:

Minskaia, Ekaterina ; Maimaris, Jesmeen ; Jenkins, Persephone...
Journal of Clinical Immunology. 43 (2023) 7 - p. 1611-1622 , 2023

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

2

Practical challenges for functional validation of STAT1 gai..:

Albuquerque, Adriana S ; Maimaris, Jesmeen ; McKenna, Alexander J...
Clinical and Experimental Immunology. 212 (2023) 2 - p. 166-169 , 2023

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

3

ZSWIM7Is Associated With Human Female Meiosis and Familial ..:

McGlacken-Byrne, Sinéad M ; Le Quesne Stabej, Polona ; Del Valle, Ignacio...
The Journal of Clinical Endocrinology & Metabolism. 107 (2021) 1 - p. e254-e263 , 2021

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

4

Novel missense variants in the RNF213 gene from a European ..:

Gagunashvili, Andrey N. ; Ocaka, Louise ; Kelberman, Daniel...
Human Genome Variation. 6 (2019) 1 - p. , 2019

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

5

Managing Bardet–Biedl Syndrome—Now and in the Future:

Forsythe, Elizabeth ; Kenny, Joanna ; Bacchelli, Chiara.
Frontiers in Pediatrics. 6 (2018) - p. , 2018

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

6

COLEC10 is mutated in 3MC patients and regulates early cran..:

Munye, Mustafa M. ; Diaz-Font, Anna ; Ocaka, Louise...
PLOS Genetics. 13 (2017) 3 - p. e1006679 , 2017

Link: https://doi.org/10.1371/..

7

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 a..:

Hartill, Verity L ; van de Hoek, Glenn ; Patel, Mitali P...
Human Molecular Genetics. 27 (2017) 3 - p. 529-545 , 2017

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

8

Mutations in linker for activation of T cells (LAT) lead to..:

Bacchelli, Chiara ; Moretti, Federico A. ; Carmo, Marlene...
Journal of Allergy and Clinical Immunology. 139 (2017) 2 - p. 634-642.e5 , 2017

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

9

Novel G6B gene variant causes familial autosomal recessive ..:

Melhem, Motasem ; Abu‐Farha, Mohamed ; Antony, Dinu...
European Journal of Haematology. 98 (2017) 3 - p. 218-227 , 2017

Link: https://doi.org/10.1111/..

10

Exome sequencing for the differential diagnosis of ciliary ..:

Antony, Dinu ; Nampoory, Narayanan ; Bacchelli, Chiara...
European Journal of Medical Genetics. 60 (2017) 12 - p. 658-666 , 2017

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

11

Phenotypic and Genotypic Characterisation of Inflammatory B..:

Kammermeier, Jochen ; Dziubak, Robert ; Pescarin, Matilde...
Journal of Crohn's and Colitis. 11 (2016) 1 - p. 60-69 , 2016

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

12

Variable Phenotype of Severe Immunodeficiencies Associated ..:

Ip, Winnie ; Gaspar, H. Bobby ; Kleta, Robert...
Journal of Clinical Immunology. 35 (2015) 2 - p. 147-157 , 2015

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

13

The use of whole-exome sequencing to disentangle complex ph..:

GOSgene ; Williams, Hywel J ; Hurst, John R...
European Journal of Human Genetics. 24 (2015) 2 - p. 298-301 , 2015

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

14

STAG3 truncating variant as the cause of primary ovarian in..:

GOSgene ; Le Quesne Stabej, Polona ; Williams, Hywel J...
European Journal of Human Genetics. 24 (2015) 1 - p. 135-138 , 2015

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

15

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive ..:

Thomas, Anna C. ; Williams, Hywel ; Setó-Salvia, Núria...
The American Journal of Human Genetics. 95 (2014) 5 - p. 611-621 , 2014

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