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Nature Biotechnology|November 10, 2017
Assisted reproductive technologies to prevent human mitochondrial disease transmissionAndy Greenfield, Peter Braude, Frances Flinter, et al.BJU International|August 12, 2014
The genetic diversity of cystinuria in a UK population of patientsKathie A Wong, Rachael Mein, Mark Wass, et al.Progress in Transplantation (Aliso Viejo, Calif.)|December 23, 2006
Smoothing things over: the transition from pediatric to adult care for kidney transplant recipientsRowena Remorino, Judy TaylorClinical Journal of the American Society of Nephrology : CJASN|June 12, 2016
Alport Syndrome in Women and GirlsJudy Savige, Deb Colville, Michelle Rheault, et al.Journal of Applied Research in Intellectual Disabilities : JARID|August 24, 2017
Genetic testing in intellectual disability psychiatry: Opinions and practices of UK child and intellectual disability psychiatristsKate Wolfe, Kerstin Stueber, Andrew McQuillin, et al.Pediatric Nephrology (Berlin, Germany)|December 17, 2013
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutationsMardhiah Mohammad, Ranjit Nanra, Deb Colville, et al.Pediatric Nephrology (Berlin, Germany)|November 2, 2013
Clinical and genetic features in autosomal recessive and X-linked Alport syndromeYanyan Wang, Vanessa Sivakumar, Mardhiah Mohammad, et al.American Journal of Medical Genetics. Part A|April 8, 2015
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathyHormos Salimi Dafsari, Susan Byrne, Jean-Pierre Lin, et al.European Journal of Medical Genetics|May 28, 2013
The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)Marianne B M van den Bree, Gregory Miller, Elizabeth Mansell, et al.European Journal of Human Genetics : EJHG|May 20, 2004
Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromesGhazala Mirza, Ruth R Williams, Shela Mohammed, et al.Pageof 10