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	1.	A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. [electronic resource] by Becker, K Splitt, M Producer: 20010315 In: Clinical dysmorphology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Another case of maternal uniparental disomy chromosome 14 syndrome. [electronic resource] by Splitt, M P Goodship, J A Producer: 19971112 In: American journal of medical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Defects in the determination of left-right asymmetry. [electronic resource] by Splitt, M P Burn, J Goodship, J Producer: 19961203 In: Journal of medical genetics vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Connexin43 mutations in sporadic and familial defects of laterality. [electronic resource] by Splitt, M P Burn, J Goodship, J Producer: 19951010 In: The New England journal of medicine vol. 333 Availability: No items available. Save to lists Add to cart (remove)
	5.	Left-isomerism sequence and maternal type-1 diabetes. [electronic resource] by Splitt, M Wright, C Sen, D Goodship, J Producer: 19990823 In: Lancet (London, England) vol. 354 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	[Familial occurrence of cyclops over several generations]. [electronic resource] by Pfitzer, P Splitt, M Müntefering, H Friesenecker, J E Producer: 19830811 In: Verhandlungen der Deutschen Gesellschaft fur Pathologie vol. 66 Availability: No items available. Save to lists Add to cart (remove)
	7.	Autosomal dominant transmission of Pallister-Hall syndrome. [electronic resource] by Penman Splitt, M Wright, C Perry, R Burn, J Producer: 19950427 In: Clinical dysmorphology vol. 3 Availability: No items available. Save to lists Add to cart (remove)
	8.	Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy. [electronic resource] by Penman Splitt, M Tsai, M Y Burn, J Goodship, J A Producer: 19970604 In: Heart (British Cardiac Society) vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Phenotypic spectrum associated with de novo mutations in QRICH1 gene. [electronic resource] by Ververi, A Splitt, M Dean, J C S Brady, A F Producer: 20190730 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. [electronic resource] by Goodship, J Gill, H Carter, J Jackson, A Splitt, M Wright, M Producer: 20000821 In: American journal of human genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A constitutional telomeric translocation showing meiotic instability. [electronic resource] by Josifova, D J Mazzaschi, R Ballard, T Ogilvie, C Mackie Splitt, M Producer: 20060727 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation. [electronic resource] by Whitaker, S Leech, S Taylor, A Splitt, M Natarajan, S Rajan, N Producer: 20161213 In: Clinical and experimental dermatology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Phacomatosis pigmentokeratotica and precocious puberty associated with HRAS mutation. [electronic resource] by Martin, R J Arefi, M Splitt, M Redford, L Moss, C Rajan, N Producer: 20190409 In: The British journal of dermatology vol. 178 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Dry skin and blistering in childhood. [electronic resource] by Dubois, A Arefi, M Splitt, M P Leech, S Natarajan, S Rajan, N Producer: 20180205 In: Clinical and experimental dermatology vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome. [electronic resource] by Wheway, J M Yau, S C Nihalani, V Ellis, D Irving, M Splitt, M Roberts, R G Producer: 20030310 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. [electronic resource] by Lindsay, S Splitt, M Edney, S Berney, T P Knight, S J Davies, K E O'Brien, O Gale, M Burn, J Producer: 19960725 In: American journal of human genetics vol. 58 Availability: No items available. Save to lists Add to cart (remove)
	17.	Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. [electronic resource] by Tassabehji, M Metcalfe, K Karmiloff-Smith, A Carette, M J Grant, J Dennis, N Reardon, W Splitt, M Read, A P Donnai, D Producer: 19990310 In: American journal of human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. [electronic resource] by Morgan, D Turnpenny, L Goodship, J Dai, W Majumder, K Matthews, L Gardner, A Schuster, G Vien, L Harrison, W Elder, F F Penman-Splitt, M Overbeek, P Strachan, T Producer: 19981028 In: Nature genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	X-linked situs abnormalities result from mutations in ZIC3. [electronic resource] by Gebbia, M Ferrero, G B Pilia, G Bassi, M T Aylsworth, A Penman-Splitt, M Bird, L M Bamforth, J S Burn, J Schlessinger, D Nelson, D L Casey, B Producer: 19971204 In: Nature genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy. [electronic resource] by Low, K J Stals, K Caswell, R Wakeling, M Clayton-Smith, J Donaldson, A Foulds, N Norman, A Splitt, M Urankar, K Vijayakumar, K Majumdar, A Study, Ddd Ellard, S Smithson, S F Producer: 20190221 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 29 results.