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Publications

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR J Clin Invest. 2021 Mar 1; 131(5):e142148

Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

Van Winckel, G.; Ballhausen, D; Wolf, B; Procter, M; Mao, R; Burda, P; Strambo, D; Kuntzer, T; Tran, C. Front Neurol. 2020 Oct 26; 11:516799

Novel BCS1L Gene Variants and Association with Björnstad Syndrome

Gandelman, J.; Sanders, V.R.; Yazdan, P.; Wolf, B.; Chamlin, S.L. The Hearing Journal. 2020 Jul 1; 73(7):37-39