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Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04126-6
By:
- Heshusius, Steven;
- Grech, Laura;
- Gillemans, Nynke;
- Brouwer, Rutger W. W.;
- den Dekker, Xander T.;
- van IJcken, Wilfred F. J.;
- Nota, Benjamin;
- Felice, Alex E.;
- van Dijk, Thamar B.;
- von Lindern, Marieke;
- Borg, Joseph;
- van den Akker, Emile;
- Philipsen, Sjaak
Publication type:
Article
Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family.
Published in:
Clinical Medicine Insights: Case Reports, 2019, v. 12, p. N.PAG, doi. 10.1177/1179547619831034
By:
- Pace, Nikolai Paul;
- Rizzo, Christopher;
- Abela, Alexia;
- Gruppetta, Mark;
- Fava, Stephen;
- Felice, Alex;
- Vassallo, Josanne
Publication type:
Article
Identification of an HNF1A p.Gly292fs Frameshift Mutation Presenting as Diabetes During Pregnancy in a Maltese Family.
Published in:
Clinical Medicine Insights: Case Reports, 2019, n. 12, p. N.PAG, doi. 10.1177/1179547619831034
By:
- Pace, Nikolai Paul;
- Rizzo, Christopher;
- Abela, Alexia;
- Gruppetta, Mark;
- Fava, Stephen;
- Felice, Alex;
- Vassallo, Josanne
Publication type:
Article
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 295, doi. 10.1038/ng.785
By:
- Giardine, Belinda;
- Borg, Joseph;
- Higgs, Douglas R.;
- Peterson, Kenneth R.;
- Philipsen, Sjaak;
- Maglott, Donna;
- Singleton, Belinda K.;
- Anstee, David J.;
- Basak, A. Nazli;
- Clark, Barnaby;
- Costa, Flavia C.;
- Faustino, Paula;
- Fedosyuk, Halyna;
- Felice, Alex E.;
- Francina, Alain;
- Galanello, Renzo;
- Gallivan, Monica V. E.;
- Georgitsi, Marianthi;
- Gibbons, Richard J.;
- Giordano, Piero C.
Publication type:
Article
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Published in:
Nature Genetics, 2010, v. 42, n. 9, p. 801, doi. 10.1038/ng.630
By:
- Borg, Joseph;
- Papadopoulos, Petros;
- Georgitsi, Marianthi;
- Gutiérrez, Laura;
- Grech, Godfrey;
- Fanis, Pavlos;
- Phylactides, Marios;
- Verkerk, Annemieke J. M. H.;
- van der Spek, Peter J.;
- Scerri, Christian A.;
- Cassar, Wilhelmina;
- Galdies, Ruth;
- van IJcken, Wilfred;
- Özgür, Zeliha;
- Gillemans, Nynke;
- Hou, Jun;
- Bugeja, Marisa;
- Grosveld, Frank G.;
- von Lindern, Marieke;
- Felice, Alex E.
Publication type:
Article
Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0327-x
By:
- Zahra, Charmaine;
- Tabone, Christine;
- Camilleri, Graziella;
- Felice, Alex E.;
- Farrugia, Rosienne;
- Wettinger, Stephanie Bezzina
Publication type:
Article
Novel Polymorphisms Influencing Transcription of the Human CHRM2 Gene in Airway Smooth Muscle.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2004, v. 30, n. 5, p. 678, doi. 10.1165/rcmb.2003-0011OC
By:
- Fenech, Anthony G.;
- Billington, Charlotte K.;
- Swan, Caroline;
- Richards, Susan;
- Hunter, Therese;
- Ebejer, Martin J.;
- Felice, Alex E.;
- Ellul-Micallef, Roger;
- Hall, Ian P.
Publication type:
Article
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1116, doi. 10.1038/ejhg.2014.272
By:
- Mora, Marina;
- Angelini, Corrado;
- Bignami, Fabrizia;
- Bodin, Anne-Mary;
- Crimi, Marco;
- Di Donato, Jeanne- Hélène;
- Felice, Alex;
- Jaeger, Cécile;
- Karcagi, Veronika;
- LeCam, Yann;
- Lynn, Stephen;
- Meznaric, Marija;
- Moggio, Maurizio;
- Monaco, Lucia;
- Politano, Luisa;
- de la Paz, Manuel Posada;
- Saker, Safaa;
- Schneiderat, Peter;
- Ensini, Monica;
- Garavaglia, Barbara
Publication type:
Article
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy.
Published in:
Annals of Neurology, 2012, v. 71, n. 4, p. 520, doi. 10.1002/ana.22685
By:
- Friedman, Jennifer;
- Roze, Emmanuel;
- Abdenur, Jose E.;
- Chang, Richard;
- Gasperini, Serena;
- Saletti, Veronica;
- Wali, Gurusidheshwar M.;
- Eiroa, Hernan;
- Neville, Brian;
- Felice, Alex;
- Parascandalo, Ray;
- Zafeiriou, Dimitrios I.;
- Arrabal-Fernandez, Luisa;
- Dill, Patricia;
- Eichler, Florian S.;
- Echenne, Bernard;
- Gutierrez-Solana, Luis G.;
- Hoffmann, Georg F.;
- Hyland, Keith;
- Kusmierska, Katarzyna
Publication type:
Article
A comparative profile of total protein and six angiogenically-active growth factors in three platelet products.
Published in:
GMS Interdisciplinary Plastic & Reconstructive Surgery DGPW, 2022, v. 11, n. 1, p. 1, doi. 10.3205/iprs000167
By:
- Custo, Scott;
- Baron, Byron;
- Felice, Alex;
- Seria, Elisa
Publication type:
Article
Treatment of leg ulcers with platelet-derived wound healing factor (pdwhfs) in a patient with beta thalassaemia intermedia.
Published in:
British Journal of Haematology, 2001, v. 112, n. 2, p. 528, doi. 10.1046/j.1365-2141.2001.02540-2.x
By:
- Josifova, Dragana;
- Gatt, Gabriella;
- Aquilina, Alex;
- Serafimov V, Viktor;
- Vella, Adrian;
- Felice, Alex E.
Publication type:
Article
Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy.
Published in:
BMC Endocrine Disorders, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12902-018-0257-z
By:
- Pace, Nikolai Paul;
- Craus, Johann;
- Felice, Alex;
- Vassallo, Josanne
Publication type:
Article
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
Published in:
Human Mutation, 2011, v. 32, n. 1, p. 2, doi. 10.1002/humu.21397
By:
- Patrinos, George P.;
- Al Aama, Jumana;
- Al Aqeel, Aida;
- Al-Mulla, Fahd;
- Borg, Joseph;
- Devereux, Andrew;
- Felice, Alex E.;
- Macrae, Finlay;
- Marafie, Makia J.;
- Petersen, Michael B.;
- Qi, Ming;
- Ramesar, Rajkumar S.;
- Zlotogora, Joel;
- Cotton, Richard G.H.
Publication type:
Article
Immunoglobulin G in Platelet-Derived Wound Healing Factors.
Published in:
BioMed Research International, 2021, p. 1, doi. 10.1155/2021/4762657
By:
- Seria, Elisa;
- Samut Tagliaferro, Sarah;
- Cutajar, Doreen;
- Galdies, Ruth;
- Felice, Alex
Publication type:
Article
Spatiotemporal expression and control of haemoglobin in space.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49289-8
By:
- Borg, Josef;
- Loy, Conor;
- Kim, JangKeun;
- Buhagiar, Alfred;
- Chin, Christopher;
- Damle, Namita;
- De Vlaminck, Iwijn;
- Felice, Alex;
- Liu, Tammy;
- Matei, Irina;
- Meydan, Cem;
- Muratani, Masafumi;
- Mzava, Omary;
- Overbey, Eliah;
- Ryon, Krista A.;
- Smith, Scott M.;
- Tierney, Braden T.;
- Trudel, Guy;
- Zwart, Sara R.;
- Beheshti, Afshin
Publication type:
Article
The role of the A→C<sub>395</sub> IFNGR1 mutation in determining susceptibility to intracellular infection in Malta.
Published in:
Malta Medical Journal, 2012, v. 24, n. 2, p. 16
By:
- Anderson, Suzanne T.;
- Mangion, Mariella;
- Newport, Melanie J.;
- Felice, Alex;
- Hibberd, Martin;
- Levin, Mike;
- Montalto, Simon Attard
Publication type:
Article
Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.
Published in:
Human Mutation, 1998, v. 11, p. S189, doi. 10.1002/humu.1380110161
By:
- Alshinawi, Connie;
- Scerri, Christian;
- Galdies, Ruth;
- Aquilina, Alex;
- Felice, Alex E.
Publication type:
Article

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