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	21.	Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces. [electronic resource] by Sinnige, P F van Ravenswaaij-Arts, C M A Caruso, P Lin, A E Boon, M Rahikkala, E Callewaert, B Meiners, L C Producer: 20180509 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	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)
	23.	Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2. [electronic resource] by Patat, O van Ravenswaaij-Arts, C M A Tantau, J Corsten-Janssen, N van Tintelen, J P Dijkhuizen, T Kaplan, J Chassaing, N Producer: 20131029 In: Molecular syndromology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Death in CHARGE syndrome after the neonatal period. [electronic resource] by Bergman, J E H Blake, K D Bakker, M K du Marchie Sarvaas, G J Free, R H van Ravenswaaij-Arts, C M A Producer: 20100706 In: Clinical genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Fountain syndrome: further delineation of the clinical syndrome and follow-up data. [electronic resource] by Van Buggenhout, G J Van Ravenswaaij-Arts, C M Renier, W O Van de Wiel, M P Trommelen, J C Pijkels, E Hamel, B C Fryns, J P Producer: 19970303 In: Genetic counseling (Geneva, Switzerland) vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	26.	Disturbed serine metabolism and psychosis in a patient with a de novo translocation (2;10)(p23;q22.1). [electronic resource] by Verhoeven, W M A Van Ravenswaaij-Arts, C M A De Leeuw, N Fekkes, D Van der Heijden, F M M A Egger, J I M Tuinier, S Producer: 20070508 In: Genetic counseling (Geneva, Switzerland) vol. 17 Availability: No items available. Save to lists Add to cart (remove)
	27.	Molecular and clinical studies in 8 patients with Temple syndrome. [electronic resource] by Gillessen-Kaesbach, G Albrecht, B Eggermann, T Elbracht, M Mitter, D Morlot, S van Ravenswaaij-Arts, C M A Schulz, S Strobl-Wildemann, G Buiting, K Beygo, J Producer: 20191203 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines. [electronic resource] by Hitzert, M M van der Crabben, S N Baldewsingh, G van Amstel, H K Ploos van den Wijngaard, A van Ravenswaaij-Arts, C M A Zijlmans, C W R Producer: 20200727 In: Orphanet journal of rare diseases vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery. [electronic resource] by Vesseur, A C Verbist, B M Westerlaan, H E Kloostra, F J J Admiraal, R J C van Ravenswaaij-Arts, C M A Free, R H Mylanus, E A M Producer: 20170410 In: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery vol. 273 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. [electronic resource] by De Krom, G Arens, Y H J M Coonen, E Van Ravenswaaij-Arts, C M A Meijer-Hoogeveen, M Evers, J L H Van Golde, R J T De Die-Smulders, C E M Producer: 20150908 In: Human reproduction (Oxford, England) vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. [electronic resource] by Corsten-Janssen, N Saitta, S C Hoefsloot, L H McDonald-McGinn, D M Driscoll, D A Derks, R Dickinson, K A Kerstjens-Frederikse, W S Emanuel, B S Zackai, E H van Ravenswaaij-Arts, C M A Producer: 20130725 In: Molecular syndromology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. [electronic resource] by Powis, Z Petrik, I Cohen, J S Escolar, D Burton, J van Ravenswaaij-Arts, C M A Sival, D A Stegmann, A P A Kleefstra, T Pfundt, R Chikarmane, R Begtrup, A Huether, R Tang, S Shinde, D N Producer: 20190925 In: Clinical genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. [electronic resource] by Jongmans, M C J van Ravenswaaij-Arts, C M A Pitteloud, N Ogata, T Sato, N Claahsen-van der Grinten, H L van der Donk, K Seminara, S Bergman, J E H Brunner, H G Crowley, W F Hoefsloot, L H Producer: 20090217 In: Clinical genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. [electronic resource] by Verheij, J B G M de Munnik, S A Dijkhuizen, T de Leeuw, N Olde Weghuis, D van den Hoek, G J Rijlaarsdam, R S Thomasse, Y E M Dikkers, F G Marcelis, C L M van Ravenswaaij-Arts, C M A Producer: 20091113 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Update on Kleefstra Syndrome. [electronic resource] by Willemsen, M H Vulto-van Silfhout, A T Nillesen, W M Wissink-Lindhout, W M van Bokhoven, H Philip, N Berry-Kravis, E M Kini, U van Ravenswaaij-Arts, C M A Delle Chiaie, B Innes, A M M Houge, G Kosonen, T Cremer, K Fannemel, M Stray-Pedersen, A Reardon, W Ignatius, J Lachlan, K Mircher, C Helderman van den Enden, P T J M Mastebroek, M Cohn-Hokke, P E Yntema, H G Drunat, S Kleefstra, T Publication details: Molecular syndromology Apr 2012 In: Molecular syndromology vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)