المؤلفون: Pagnamenta, AT, Belles, RS, Salbert, BA, Wentzensen, IM, Guillen Sacoto, MJ, Santos, FJR, Caffo, A, Ferla, M, Banos-Pinero, B, Pawliczak, K, Makvand, M, Najmabadi, H, Maroofian, R, Lester, T, Yanez-Felix, AL, Villarroel-Cortes, CE, Xia, F, Al Fayez, K, Al Hashem, A, Shears, D, Irving, M, Offiah, AC, Kariminejad, A, Taylor, JC

المصدر: Clinical Genetics (2023) (In press).

مصطلحات موضوعية: bone diseases, medical genetics, skeletal dysplasia, whole genome sequencing

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf; https://discovery.ucl.ac.uk/id/eprint/10168391/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10168391/1/The%20prevalence%20and%20phenotypic%20range%20associated%20with%20biallelic%20PKDCC%20variants.pdf
https://discovery.ucl.ac.uk/id/eprint/10168391/

المؤلفون: Parenti I, Leitao E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel A-L, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde M-T, Keren B, Afenjar A, Tabet A-C, Levy J, Maruani A, Aledo-Serrano A, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C

المصدر: Frontiers in Cell and Developmental Biology, 8 December 2022

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/288746; https://eprints.ncl.ac.uk/fulltext.aspx?url=288746/A0DF378A-F879-4CC0-8E86-7F4425B9821A.pdf&pub_id=288746

الاتاحة: https://eprints.ncl.ac.uk/288746