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	1721.	Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. [electronic resource] by Porter, Louise F Gallego-Pinazo, Roberto Keeling, Catherine L Kamieniorz, Martyna Zoppi, Nicoletta Colombi, Marina Giunta, Cecilia Bonshek, Richard Manson, Forbes D Black, Graeme C Producer: 20160706 In: Orphanet journal of rare diseases vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1722.	Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report. [electronic resource] by Grzechocińska, Barbara Warzecha, Damian Wypchło, Maria Ploski, Rafal Wielgoś, Mirosław Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1723.	Epidermodysplasia verruciformis. 3. Ultraviolet micro-irradiation of cells in culture. [electronic resource] by Moreno, G Pruniéras, M Producer: 19740919 In: Archiv fur dermatologische Forschung vol. 249 Availability: No items available. Save to lists Add to cart (remove)
	1724.	MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. [electronic resource] by Garavelli, L Leask, K Zanacca, C Pedori, S Albertini, G Della Giustina, E Croci, G F Magnani, C Banchini, G Clayton-Smith, J Bocian, M Firth, H Gold, J A Hurst, J Producer: 20060111 In: Genetic counseling (Geneva, Switzerland) vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	1725.	Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome. [electronic resource] by Ramappa, Muralidhar Wilson, M Edward Rogers, R Curtis Trivedi, Rupal H Producer: 20150625 In: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1726.	The popliteal pterygium syndrome: an analysis of two families. [electronic resource] by Spauwen, P H Cobben, J M Gardeniers, J W Producer: 19950126 In: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1727.	Quantitating the lateral skin stiffness by a new and versatile electro-mechanical instrument. Preliminary studies. [electronic resource] by Nomura, M Velleman, D Pierre, J Flament, F Producer: 20181126 In: Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1728.	Targeted disruption of LIG-1 gene results in psoriasiform epidermal hyperplasia. [electronic resource] by Suzuki, Yutaka Miura, Hiroyuki Tanemura, Atsushi Kobayashi, Kinji Kondoh, Gen Sano, Shigetoshi Ozawa, Kentaro Inui, Shigeki Nakata, Aya Takagi, Tsutomu Tohyama, Masaya Yoshikawa, Kunihiko Itami, Satoshi Producer: 20020801 In: FEBS letters vol. 521 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1729.	HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. [electronic resource] by Gripp, Karen W Lin, Angela E Stabley, Deborah L Nicholson, Linda Scott, Charles I Doyle, Daniel Aoki, Yoko Matsubara, Yoichi Zackai, Elaine H Lapunzina, Pablo Gonzalez-Meneses, Antonio Holbrook, Jennifer Agresta, Cynthia A Gonzalez, Iris L Sol-Church, Katia 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)
	1730.	Heritable dysmorphic syndrome with normal intelligence. [electronic resource] by Hecht, F Jarvinen, J M Producer: 19670802 In: The Journal of pediatrics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1731.	Epidermal differentiation: transgenic/knockout mouse models reveal genes involved in stem cell fate decisions and commitment to differentiation. [electronic resource] by Koster, Maranke I Huntzinger, Kimberly A Roop, Dennis R Producer: 20030619 In: The journal of investigative dermatology. Symposium proceedings vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1732.	Pseudoxanthoma elasticum: Wide phenotypic variation in homozygotes and no signs in heterozygotes for the c.3775delT mutation in ABCC6. [electronic resource] by Plomp, Astrid S Bergen, Arthur A B Florijn, Ralph J Terry, Sharon F Toonstra, Johan van Dijk, Marijke R de Jong, Paulus T V M Producer: 20100305 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1733.	Congenital vertical talus in multiple pterygium syndrome. [electronic resource] by Angsanuntsukh, Chanika Oto, Murat Holmes, Laurens Rogers, Kenneth J King, Marilyn Marnie Donohoe, Maureen Kumar, S Jay Producer: 20111201 In: Journal of pediatric orthopedics vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1734.	Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. [electronic resource] by van Rahden, Vanessa A Fernandez-Vizarra, Erika Alawi, Malik Brand, Kristina Fellmann, Florence Horn, Denise Zeviani, Massimo Kutsche, Kerstin Producer: 20150529 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1735.	Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)-associated mutant FOXL2 proteins. [electronic resource] by Kim, Jae-Hong Bae, Jeehyeon Producer: 20141106 In: The Journal of reproduction and development vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1736.	Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years. [electronic resource] by Skalicka, Pavlina Porter, Louise F Brejchova, Kristyna Malinka, Frantisek Dudakova, Lubica Liskova, Petra Producer: 20210426 In: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1737.	FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). [electronic resource] by Fan, Jia-Yan Wang, Ye-Fei Han, Bing Ji, Yong-Rong Song, Huai-Dong Fan, Xian-Qun Producer: 20110114 In: Translational research : the journal of laboratory and clinical medicine vol. 157 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1738.	Radiological signs of the syndrome of the trephined. [electronic resource] by Vasung, Lana Hamard, Marion Soto, Maria Carmen Alcaraz Sommaruga, Samuel Sveikata, Lukas Leemann, Beatrice Vargas, Maria Isabel Producer: 20180205 In: Neuroradiology vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1739.	Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1. [electronic resource] by Nomura, Yuichiro Roston, Daniel Montemayor, Eric J Cui, Qiang Butcher, Samuel E Producer: 20190701 In: Nucleic acids research vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1740.	[Genetic counseling in cases of genodermatosis]. [electronic resource] by Kozlowski, J Mazurek, A Producer: 19730321 In: Przeglad dermatologiczny vol. 59 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 1927 results.