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Clinical Dysmorphology|December 30, 2009
Amniotic bands in paternal half-siblingsMoira Blyth, Katherine LachlanJournal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine|October 11, 2017
Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel <i>PHOX2B</i> Exon 1 Missense MutationSchaida Schirwani, Karen Pysden, Philip Chetcuti, et al.Burns : Journal of the International Society for Burn Injuries|July 24, 2007
Severe staphylococcal scalded skin syndrome in childrenMoira Blyth, Catalina Estela, Amber E R YoungAmerican Journal of Medical Genetics. Part A|April 17, 2008
Severe Marfan syndrome due to FBN1 exon deletionsMoira Blyth, Nicola Foulds, Claire Turner, et al.American Journal of Medical Genetics. Part A|November 18, 2008
A novel 2.43 Mb deletion of 7q11.22-q11.23Moira Blyth, Sarah Beal, Shuwen Huang, et al.American Journal of Medical Genetics. Part A|August 16, 2014
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effectDavid J Bunyan, Emma-Jane Taylor, Vivienne K Maloney, et al.European Journal of Medical Genetics|October 14, 2008
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'Moira Blyth, Shuwen Huang, Viv Maloney, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.European Journal of Medical Genetics|December 3, 2014
21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disordersFlorence Petit, Ghislaine Plessis, Matthieu Decamp, et al.Pediatric Nephrology (Berlin, Germany)|April 30, 2013
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic diseaseRodney D Gilbert, Priya Sukhtankar, Katherine Lachlan, et al.Pageof 9