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1 Ergebnisse
1
Novel pathogenic variants and quantitative phenotypic analy..:
Chaofan Zhang
;
Angad Jolly
;
Brian J. Shayota
...
http://www.sciencedirect.com/science/article/pii/S2666247721000555. , 2022
Link:
https://doi.org/10.1016/j.xhgg.2021.100074
RT Journal T1
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:111938d44884445f92d7831c96a453cf&Exemplar=1&LAN=DE A1 Chaofan Zhang A1 Angad Jolly A1 Brian J. Shayota A1 Juliana F. Mazzeu A1 Haowei Du A1 Moez Dawood A1 Patricia Celestino Soper A1 Ariadne Ramalho de Lima A1 Bárbara Merfort Ferreira A1 Zeynep Coban-Akdemir A1 Janson White A1 Deborah Shears A1 Fraser Robert Thomson A1 Sarah Louise Douglas A1 Andrew Wainwright A1 Kathryn Bailey A1 Paul Wordsworth A1 Mike Oldridge A1 Tracy Lester A1 Alistair D. Calder A1 Katja Dumic A1 Siddharth Banka A1 Dian Donnai A1 Shalini N. Jhangiani A1 Lorraine Potocki A1 Wendy K. Chung A1 Sara Mora A1 Hope Northrup A1 Myla Ashfaq A1 Jill A. Rosenfeld A1 Kati Mason A1 Lynda C. Pollack A1 Allyn McConkie-Rosell A1 Wei Kelly A1 Marie McDonald A1 Natalie S. Hauser A1 Peter Leahy A1 Cynthia M. Powell A1 Raquel Boy A1 Rachel Sayuri Honjo A1 Fernando Kok A1 Lucia R. Martelli A1 Vicente Odone Filho A1 Genomics England Research Consortium A1 Donna M. Muzny A1 Richard A. Gibbs A1 Jennifer E. Posey A1 Pengfei Liu A1 James R. Lupski A1 V. Reid Sutton A1 Claudia M.B. Carvalho PB Elsevier YR 2022 K1 genotype-phenotype correlation K1 skeletal dysplasia K1 HPO terms K1 quantitative phenotyping cluster heatmap K1 molecular diagnosis K1 traits and OMIM clinical synopsis K1 Genetics K1 QH426-470 JF http://www.sciencedirect.com/science/article/pii/S2666247721000555 LK http://dx.doi.org/https://doi.org/10.1016/j.xhgg.2021.100074 DO https://doi.org/10.1016/j.xhgg.2021.100074 SF ELIB - SuUB Bremen
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