Search Results - "Pace, N P"

A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study by Mintoff, D., Pace, N.P., Bauer, P., Borg, I.

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A novel c.916C>A EDA gene pathogenic variant in a boy with X‐linked hypohidrotic ectodermal dysplasia by Mintoff, D., Pace, N. P., Mercieca, V., Bauer, P., Borg, I.

“…Click here for the corresponding questions to this CME article…”
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Comorbid palmoplantar keratoderma type 1A and Loeys‐Dietz syndrome type 3 in a patient with a chromosome 15 microdeletion by Mintoff, D., Pace, N.P, Al‐Kawlani, B., Bauer, P., Borg, I.

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Echocardiographic assessment of right ventricular function and right ventriculoarterial coupling in tricuspid regurgitation by Trousselle, L T, Eggenspieler, F E, Nazeyrollas, P N, Faroux, L F, Huttin, O H, Pace, N P, Filippetti, L F, Fraix, A F, Carquin, B C, Selton-Suty, C S S, Metz, D M

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Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe – A multi-professional survey study by Koido, Kati, Malmgren, Charlotta Ingvoldstad, Pojskic, Lejla, Almos, Peter Z., Bergen, Sarah E., Borg, Isabella, Božina, Nada, Coviello, Domenico A., Degenhardt, Franziska, Ganoci, Lana, Jensen, Uffe B., Durand-Lennad, Louise, Laurent-Levinson, Claudine, McQuillin, Andrew, Navickas, Alvydas, Pace, Nikolai P., Paneque, Milena, Rietschel, Marcella, Grigoroiu-Serbanescu, Maria, Soller, Maria Johansson, Suvisaari, Jaana, Utkus, Algirdas, Van Assche, Evelien, Vissouze, Lily, Zuckerman, Shachar, Chaumette, Boris, Tammimies, Kristiina

“…Genetic research has identified a large number of genetic variants, both rare and common, underlying neurodevelopmental disorders (NDD) and major psychiatric…”
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A novel c.671_682del NCSTN variant in a family with hidradenitis suppurativa: a pilot study by Mintoff, D, Pace, N P, Bauer, P, Borg, I

Get full text