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Human Genetics|March 26, 2025
Congenital enteropathy caused by ezrin deficiencyGeorg F Vogel, Katharina M C Klee, Arzu Meltem Demir, et al.
Human Mutation|May 28, 2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channelKatja Koeppen, Peggy Reuter, Thomas Ladewig, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndromeRudolf Glueckert, Helge Rask-Andersen, Consolato Sergi, et al.
Journal of Hypertension|April 19, 2005
Systemic cardiovascular disease in uremic rats induced by 1,25(OH)2D3Dieter Haffner, Berthold Hocher, Dominik Müller, et al.
Transplantation|December 19, 2009
Decreased transplant arteriosclerosis in endothelial nitric oxide synthase-deficient miceHong Zebger-Gong, Jan Kampmann, Linghua Kong, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 24, 2006
Arterial and cardiac disease in young adults with childhood-onset end-stage renal disease-impact of calcium and vitamin D therapySonia Briese, Sandra Wiesner, Joachim C Will, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlationMatthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, et al.
Hepatology (Baltimore, Md.)|January 11, 2017
CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndromeAndré Viveiros, Marion Reiterer, Benedikt Schaefer, et al.
American Journal of Human Genetics|June 3, 2008
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, et al.
American Journal of Hypertension|August 26, 2011
Validating a new oscillometric device for aortic pulse wave velocity measurements in children and adolescentsDaniela Kracht, Rukshana Shroff, Sabrina Baig, et al.
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