Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Archives of Disease in Childhood. Education and Practice Edition|September 6, 2014
How to use… microarray comparative genomic hybridisation to investigate developmental disordersMira Kharbanda, John Tolmie, Shelagh Joss
Clinical Dysmorphology|July 19, 2003
Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndromeCheryl Longman, John Tolmie, Robert McWilliam, et al.
Clinical Dysmorphology|October 18, 2003
Craniosynostosis associated with intracranial calcification: a novel recessive syndromeCheryl Longman, Margo Whiteford, David Koppel, et al.
European Journal of Medical Genetics|January 5, 2011
The face of Ulnar Mammary syndrome?Shelagh Joss, Usha Kini, Richard Fisher, et al.
Pediatric Nephrology (Berlin, Germany)|March 2, 2010
Focal segmental glomerulosclerosis, Coats'-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new associationBen C Reynolds, Richard J L F Lemmers, John Tolmie, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 22, 2009
Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystoniaCatherine A McWilliam, Cheryl K Ridout, Ruth M Brown, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
A mutation creating an upstream initiation codon in the <i>SOX9</i> 5' UTR causes acampomelic campomelic dysplasiaAnna E von Bohlen, Johann Böhm, Ramona Pop, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
Clinical Genetics|March 21, 2012
Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?Ruth McGowan, Benjamin R Challoner, Sarah Ross, et al.
Hormone Research|February 20, 2007
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenitaImran Ahmad, Wendy F Paterson, Lin Lin, et al.
Pageof 3