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American Journal of Medical Genetics. Part A|April 14, 2021
Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrumRichard Coulie, Dmitriy M Niyazov, Michael J Gambello, et al.
American Journal of Medical Genetics. Part A|November 22, 2018
Unmasking familial CPX by WES and identification of novel clinical signsBénédicte Demeer, Nicole Revencu, Raphael Helaers, et al.
The Journal of Investigative Dermatology|March 4, 2011
KITLG mutations cause familial progressive hyper- and hypopigmentationMustapha Amyere, Thomas Vogt, Joe Hoo, et al.
European Journal of Human Genetics : EJHG|September 1, 2005
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian populationMichella Ghassibé, Benedicte Bayet, Nicole Revencu, et al.
European Journal of Human Genetics : EJHG|January 10, 2013
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 geneNathalie Lannoy, Bernard Grisart, Stéphane Eeckhoudt, et al.
Kardiologia Polska|March 15, 2024
Optimizing drug adherence in hypertension: More than a mind gameTom Robberechts, Maria S Stoenoiu, Michel Burnier, et al.
American Journal of Medical Genetics. Part A|July 7, 2021
EPHB4 mutation causes adult and adolescent-onset primary lymphedemaArin K Greene, Pascal Brouillard, Christopher L Sudduth, et al.
Human Mutation|December 22, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial CleftPeyman Ranji, Eleonore Pairet, Raphael Helaers, et al.
Current Hypertension Reports|January 8, 2016
Renal Denervation for Treatment of Hypertension: a Second Start and New ChallengesAlexandre Persu, Sverre Kjeldsen, Jan A Staessen, et al.
European Journal of Neurology|April 29, 2025
Neurovascular Involvement in Fibromuscular Dysplasia: A Clue for Reappraisal of Old ClassificationsMarialuisa Zedde, Maria Simona Stoenoiu, Alexandre Persu, et al.
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