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Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.Human Mutation|January 29, 2014
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patientsDaphné Lehalle, Christopher T Gordon, Myriam Oufadem, et al.American Journal of Medical Genetics. Part A|November 27, 2014
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literatureMathilde Nizon, Joris Andrieux, Caroline Rooryck, et al.Nature Genetics|June 15, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeMarion Delous, Lekbir Baala, Rémi Salomon, et al.Nature Genetics|May 10, 2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey Putoux, Sophie Thomas, Karlien L M Coene, et al.Nature Genetics|June 1, 2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesEnza Maria Valente, Clare V Logan, Soumaya Mougou-Zerelli, et al.European Journal of Human Genetics : EJHG|April 17, 2014
New insights into genotype-phenotype correlation for GLI3 mutationsFlorence Démurger, Amale Ichkou, Soumaya Mougou-Zerelli, et al.European Journal of Human Genetics : EJHG|September 16, 2004
An excess of chromosome 1 breakpoints in male infertilityIben Bache, Elvire Van Assche, Sultan Cingoz, et al.Pageof 10