Novel Homozygous Mutation in the AGPAT2 Gene in a Child With Berardinelli-Seip Congenital Lipodystrophy Syndrome by Ahya Zaridoust, Ali Rabbani, Sima Hosseinverdi, Pascale Hilbert, Nima Rezaei

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Two novel GJA1 variants in oculodentodigital dysplasia by Nikolai P. Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg

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Genotype and Outcome After Kidney Transplantation in Alport Syndrome by Valentine Gillion, Karin Dahan, Jean-Pierre Cosyns, Pascale Hilbert, Michel Jadoul, Eric Goffin, Nathalie Godefroid, Martine De Meyer, Michel Mourad, Yves Pirson, Nada Kanaan

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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations. by Judith Savige, Helen Storey, Hae Il Cheong, Hee Gyung Kang, Eujin Park, Pascale Hilbert, Anton Persikov, Carmen Torres-Fernandez, Elisabet Ars, Roser Torra, Jens Michael Hertz, Mads Thomassen, Lev Shagam, Dongmao Wang, Yanyan Wang, Frances Flinter, Mato Nagel

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Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome by Joel T. Gibson, Mary Huang, Marina Shenelli Croos Dabrera, Krushnam Shukla, Hansjörg Rothe, Pascale Hilbert, Constantinos Deltas, Helen Storey, Beata S. Lipska-Ziętkiewicz, Melanie M. Y. Chan, Omid Sadeghi-Alavijeh, Daniel P. Gale, Genomics England Research Consortium, Agne Cerkauskaite, Judy Savige

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