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	1781.	Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II. [electronic resource] by Haghighi, Alireza Verdin, Hannah Haghighi-Kakhki, Hamidreza Piri, Niloofar Gohari, Nasrollah Saleh De Baere, Elfride Producer: 20120717 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	1782.	Nano-microcapsule basic fibroblast growth factor combined with hypoxia-inducible factor-1 improves random skin flap survival in rats. [electronic resource] by Chen, Guang-Jun Chen, Yi-Heng Yang, Xia-Qing Li, Zhi-Jie Producer: 20161027 In: Molecular medicine reports vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1783.	Genetic and Functional Analyses of Two Missense Mutations in the Transcription Factor FOXL2 in Two Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. [electronic resource] by Li, Huiyan Gu, Yangshun Producer: 20190125 In: Genetic testing and molecular biomarkers vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1784.	Targeted disruption of mouse EGF receptor: effect of genetic background on mutant phenotype. [electronic resource] by Threadgill, D W Dlugosz, A A Hansen, L A Tennenbaum, T Lichti, U Yee, D LaMantia, C Mourton, T Herrup, K Harris, R C Producer: 19950822 In: Science (New York, N.Y.) vol. 269 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1785.	The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features. [electronic resource] by Sabatino, G Verrotti, A Domizio, S Angeiozzi, B Chiarelli, F Neri, G Producer: 19970826 In: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1786.	Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome. [electronic resource] by Goldstein, C Liaw, P Jimenez, S A Buchberg, A M Siracusa, L D Producer: 19950331 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1787.	Psychomotor development and minor anomalies in children exposed to antiepileptic drugs in utero: a prospective population-based study. [electronic resource] by Wide, K Winbladh, B Tomson, T Sars-Zimmer, K Berggren, E Producer: 20000308 In: Developmental medicine and child neurology vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1788.	Pathogenesis of retinoic acid-induced abnormal pad patterns on mouse volar skin. [electronic resource] by Mori, N Tsugane, M H Yamashita, K Ikuta, Y Yasuda, M Producer: 20001109 In: Teratology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1789.	Studies on the pathogenesis of Costello syndrome. [electronic resource] by Mancini, G M S van Diggelen, O P Kleijer, W J Di Rocco, M Farina, V Yuksel-Apak, M Kayserili, H Halley, D J J Producer: 20030417 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)
	1790.	[Human development and the RAS/MAPK pathway]. [electronic resource] by Aoki, Yoko Matsubara, Yoichi Producer: 20070410 In: Seikagaku. The Journal of Japanese Biochemical Society vol. 79 Availability: No items available. Save to lists Add to cart (remove)
	1791.	Unusual and recently described cutaneous atrophic disorders. [electronic resource] by Chisholm, Cary Miedler, John Etufugh, Chukwuemeka N Ghali, Fred Cockerell, Clay J Producer: 20120326 In: International journal of dermatology vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1792.	Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts. [electronic resource] by Chiarelli, Nicola Carini, Giulia Zoppi, Nicoletta Ritelli, Marco Colombi, Marina Producer: 20191112 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1793.	HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. [electronic resource] by Estep, Anne L Tidyman, William E Teitell, Michael A Cotter, Philip D Rauen, Katherine A Producer: 20060307 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)
	1794.	A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI). [electronic resource] by Hobson, Grace M Gibson, Carolyn W Aragon, Melissa Yuan, Zhi-an Davis-Williams, Angelique Banser, Linda Kirkham, Jennifer Brook, Alan H Producer: 20090930 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1795.	Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. [electronic resource] by Capanni, Cristina Squarzoni, Stefano Cenni, Vittoria D'Apice, Maria Rosaria Gambineri, Alessandra Novelli, Giuseppe Wehnert, Manfred Pasquali, Renato Maraldi, Nadir M Lattanzi, Giovanna Producer: 20130226 In: Cell cycle (Georgetown, Tex.) vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1796.	Scraggly, a new hair loss mutation on mouse chromosome 19. [electronic resource] by Herron, B J Bryda, E C Heverly, S A Collins, D N Flaherty, L Producer: 19990923 In: Mammalian genome : official journal of the International Mammalian Genome Society vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1797.	Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes. [electronic resource] by Tartaglia, M Cotter, P D Zampino, G Gelb, B D Rauen, K A Producer: 20031224 In: Clinical genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1798.	Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death. [electronic resource] by Vasireddy, Vidyullatha Uchida, Yoshikazu Salem, Norman Kim, Soo Yeon Mandal, Md Nawajesh Ali Reddy, Geereddy Bhanuprakash Bodepudi, Ravi Alderson, Nathan L Brown, Johnie C Hama, Hiroko Dlugosz, Andrzej Elias, Peter M Holleran, Walter M Ayyagari, Radha Producer: 20070716 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1799.	First report of distal obstructive uropathy and prune-belly syndrome in an infant with amniotic band syndrome. [electronic resource] by Chen, C P Liu, F F Jan, S W Wang, K G Lan, C C Producer: 19970911 In: American journal of perinatology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1800.	Growth retardation and skin abnormalities of the Recql4-deficient mouse. [electronic resource] by Hoki, Yuko Araki, Ryoko Fujimori, Akira Ohhata, Tatsuya Koseki, Haruhiko Fukumura, Ryutaro Nakamura, Miki Takahashi, Hirokazu Noda, Yuko Kito, Seiji Abe, Masumi Producer: 20040415 In: Human molecular genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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