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	41.	Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5. [electronic resource] by Badeloe, S van Geel, M Nagtzaam, I Rubio-Gozalbo, M E Oei, R L Steijlen, P M van Steensel, M A M Producer: 20080820 In: The British journal of dermatology vol. 158 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Novel missense mutations in the FOXC2 gene alter transcriptional activity. [electronic resource] by van Steensel, M A M Damstra, R J Heitink, M V Bladergroen, R S Veraart, J Steijlen, Peter M van Geel, M Producer: 20100203 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Clustered unilateral trichoepitheliomas indicate Type 1 segmental manifestation of multiple familial trichoepithelioma. [electronic resource] by Parren, L J M T Munte, K Winnepenninckx, V van Geel, M Steijlen, P M Frank, J van Steensel, M A M Producer: 20180209 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)
	44.	A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. [electronic resource] by de Zwart-Storm, E A Hamm, H Stoevesandt, J Steijlen, P M Martin, P E van Geel, M van Steensel, M A M Producer: 20080403 In: Journal of medical genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. [electronic resource] by van Steensel, M A M Vreeburg, M Peels, C van Ravenswaaij-Arts, C M Bijlsma, E Schrander-Stumpel, C T van Geel, M Producer: 20061010 In: Experimental dermatology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Phenotypic variability associated with WNT10A nonsense mutations. [electronic resource] by Van Geel, M Gattas, M Kesler, Y Tong, P Yan, H Tran, K Steijlen, P M Murrell, D F Van Steensel, M A M Producer: 20110322 In: The British journal of dermatology vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Linkage refinement of Bazex-Dupré-Christol syndrome to an 11·4-Mb interval on chromosome Xq25-27.1. [electronic resource] by Parren, L J M T Abuzahra, F Wagenvoort, T Koene, F Van Steensel, M A M Steijlen, P M Van Geel, M Frank, J Producer: 20110914 In: The British journal of dermatology vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. [electronic resource] by de Zwart-Storm, E A van Geel, M Veysey, E Burge, S Cooper, S Steijlen, P M Martin, P E van Steensel, M A M Producer: 20110427 In: The British journal of dermatology vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. [electronic resource] by van Steensel, M A M Vreeburg, M Engelen, J Ghesquiere, S Stegmann, A P A Herbergs, J van Lent, J Smeets, B Vles, J H Producer: 20081210 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	Clinically manifest X-linked recessive ichthyosis in a female due to a homozygous interstitial 1·6-Mb deletion of Xp22.31. [electronic resource] by Nagtzaam, I F Stegmann, A P A Steijlen, P M Herbergs, J Van Lent-Albrechts, J A Van Geel, M Van Steensel, M A M Producer: 20120920 In: The British journal of dermatology vol. 166 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome. [electronic resource] by Steijlen, P M van Geel, M Vreeburg, M Marcus-Soekarman, D Spaapen, L J M Castelijns, F C M Willemsen, M van Steensel, M A M Producer: 20080410 In: The British journal of dermatology vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. [electronic resource] by Nellen, R G L Steijlen, P M Hennies, H C Fischer, J Munro, C S Jonkman, M F van Steensel, M A M van Geel, M Producer: 20140227 In: The British journal of dermatology vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	CYLD mutations differentially affect splicing and mRNA decay in Brooke-Spiegler syndrome. [electronic resource] by Parren, L J M T Baron, J M Joussen, S Marquardt, Y Hanneken, S van Steensel, M A M Steijlen, P M van Geel, M Frank, J Producer: 20191113 In: Journal of the European Academy of Dermatology and Venereology : JEADV vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. [electronic resource] by van der Velden, J J A J Jonkman, M F McLean, W H I Hamm, H Steijlen, P M van Steensel, M A M van Geel, M Producer: 20120507 In: Journal of dermatological science vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. [electronic resource] by Klaassens, M Blom, E W Schrander, J J P Ris-Stalpers, C Nieuwenhuijzen Kruseman, A C van Steensel, M A M Schrander-Stumpel, C T R M Producer: 20100920 In: The British journal of dermatology vol. 162 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. [electronic resource] by Vreeburg, M de Zwart-Storm, E A Schouten, M I Nellen, R G L Marcus-Soekarman, D Devies, M van Geel, M van Steensel, M A M Producer: 20070409 In: American journal of medical genetics. Part A vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine. [electronic resource] by van Aalst, J Vles, J S H Cuppen, I Sival, D A Niks, E H Van Rhijn, L W Van Steensel, M A M Cornips, E M J Producer: 20161213 In: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	58.	Paraneoplastic hypertrichosis lanuginosa acquisita: uncommon or overlooked? [electronic resource] by Slee, P H T J van der Waal, R I F Schagen van Leeuwen, J H Tupker, R A Timmer, R Seldenrijk, C A van Steensel, M A M Producer: 20080410 In: The British journal of dermatology vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	59.	Cutaneous clues for diagnosing X-chromosomal disorders. [electronic resource] by Vreeburg, M Sallevelt, S C E H Stegmann, A P A van Geel, M Detisch, Y J H A Schrander-Stumpel, C T R M van Steensel, M A M Marcus-Soekarman, D Producer: 20150512 In: Clinical genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	60.	Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? [electronic resource] by Badeloe, S van Spaendonck-Zwarts, K Y van Steensel, M A M van Marion, A M W van Essen, A J Jonkman, M F Steijlen, P M Poblete-Gutiérrez, P van Geel, M Frank, J Producer: 20090422 In: The British journal of dermatology vol. 160 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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