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	1.	Metatropic dysplasia lethal variants. [electronic resource] by Hall, Christine M Elçioglu, Nursel H Producer: 20040616 In: Pediatric radiology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Diagnostic dilemmas in the short rib-polydactyly syndrome group. [electronic resource] by Elçioglu, Nursel H Hall, Christine M Producer: 20030210 In: American journal of medical genetics vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Association between C677T and A1298C MTHFR gene polymorphism and nonsyndromic orofacial clefts in the Turkish population: a case-parent study. [electronic resource] by Semiç-Jusufagiç, Aida Bircan, Rıfat Çelebiler, Özhan Erdim, Melike Akarsu, Nurten Elçioğlu, Nursel H Producer: 20140729 In: The Turkish journal of pediatrics vol. 54 Availability: No items available. Save to lists Add to cart (remove)
	4.	Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. [electronic resource] by Rooryck, Caroline Morice-Picard, Fanny Elçioglu, Nursel H Lacombe, Didier Taieb, Alain Arveiler, Benoît Producer: 20081104 In: Pigment cell & melanoma research vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Recessive omodysplasia: five new cases and review of the literature. [electronic resource] by Elçioglu, Nursel H Gustavson, Karl H Wilkie, Andrew O M Yüksel-Apak, Memune Spranger, Jürgen W Producer: 20040616 In: Pediatric radiology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. [electronic resource] by Mansur, Ayse Tulin Elcioglu, Nursel H Redler, Silke Serdar, Zehra A Cetinel, Sule Betz, Regina C Akarsu, Nurten A Producer: 20101116 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region. [electronic resource] by Elcioglu, Nursel H Akin, Burcu Toker, Ebru Elcioglu, Mustafa Kaya, Ali Tuncali, Timur Wollnik, Bernd Hornby, Stella Akarsu, Nurten A Producer: 20080124 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. [electronic resource] by Guo, Long Elcioglu, Nursel H Iida, Aritoshi Demirkol, Yasemin K Aras, Seda Matsumoto, Naomichi Nishimura, Gen Miyake, Noriko Ikegawa, Shiro Producer: 20170515 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement. [electronic resource] by Mansur, A Tülin Elcioglu, Nursel H Aydingöz, Ikbal E Akkaya, A Deniz Serdar, Zehra Asiran Herz, Corinna Bruckner-Tuderman, Leena Has, Cristina Producer: 20080206 In: Acta dermato-venereologica vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia. [electronic resource] by Guo, Long Elcioglu, Nursel H Mizumoto, Shuji Wang, Zheng Noyan, Bilge Albayrak, Hatice M Yamada, Shuhei Matsumoto, Naomichi Miyake, Noriko Nishimura, Gen Ikegawa, Shiro Producer: 20180515 In: Journal of human genetics vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. [electronic resource] by Giunta, Cecilia Elçioglu, Nursel H Albrecht, Beate Eich, Georg Chambaz, Céline Janecke, Andreas R Yeowell, Heather Weis, MaryAnn Eyre, David R Kraenzlin, Marius Steinmann, Beat Producer: 20080627 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. [electronic resource] by Rosin, Nadine Elcioglu, Nursel H Beleggia, Filippo Isgüven, Pinar Altmüller, Janine Thiele, Holger Steindl, Katharina Joset, Pascal Rauch, Anita Nürnberg, Peter Wollnik, Bernd Yigit, Gökhan Producer: 20160428 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	CRIM1 haploinsufficiency causes defects in eye development in human and mouse. [electronic resource] by Beleggia, Filippo Li, Yun Fan, Jieqing Elcioğlu, Nursel H Toker, Ebru Wieland, Thomas Maumenee, Irene H Akarsu, Nurten A Meitinger, Thomas Strom, Tim M Lang, Richard Wollnik, Bernd Producer: 20160201 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. [electronic resource] by Schlump, Jan-Ulrich Stein, Anja Hehr, Ute Karen, Tanja Möller-Hartmann, Claudia Elcioglu, Nursel H Bogdanova, Nadja Woike, Hartmut Fritz Lohmann, Dietmar R Felderhoff-Mueser, Ursula Linz, Annette Wieczorek, Dagmar Producer: 20130425 In: European journal of pediatrics vol. 171 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. [electronic resource] by Michaud, Vincent Lasseaux, Eulalie Plaisant, Claudio Verloes, Alain Perdomo-Trujillo, Yaumara Hamel, Christian Elcioglu, Nursel H Leroy, Bart Kaplan, Josseline Jouk, Pierre-Simon Lacombe, Didier Fergelot, Patricia Morice-Picard, Fanny Arveiler, Benoit Producer: 20180618 In: Pigment cell & melanoma research vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	PAPSS2 mutations cause autosomal recessive brachyolmia. [electronic resource] by Miyake, Noriko Elcioglu, Nursel H Iida, Aritoshi Isguven, Pinar Dai, Jin Murakami, Nobuyuki Takamura, Kazuyuki Cho, Tae-Joon Kim, Ok-Hwa Hasegawa, Tomonobu Nagai, Toshiro Ohashi, Hirofumi Nishimura, Gen Matsumoto, Naomichi Ikegawa, Shiro Producer: 20121228 In: Journal of medical genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations. [electronic resource] by Colombo, Elisa A Bazan, J Fernando Negri, Gloria Gervasini, Cristina Elcioglu, Nursel H Yucelten, Deniz Altunay, Ilknur Cetincelik, Umram Teti, Anna Del Fattore, Andrea Luciani, Matteo Sullivan, Spencer K Yan, Albert C Volpi, Ludovica Larizza, Lidia Producer: 20120719 In: Orphanet journal of rare diseases vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. [electronic resource] by Bayram, Yavuz Pehlivan, Davut Karaca, Ender Gambin, Tomasz Jhangiani, Shalini N Erdin, Serkan Gonzaga-Jauregui, Claudia Wiszniewski, Wojciech Muzny, Donna Elcioglu, Nursel H Yildirim, M Selman Bozkurt, Banu Zamani, Ayse Gul Boerwinkle, Eric Gibbs, Richard A Lupski, James R Producer: 20150420 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. [electronic resource] by Khan, Kamron Logan, Clare V McKibbin, Martin Sheridan, Eamonn Elçioglu, Nursel H Yenice, Ozlem Parry, David A Fernandez-Fuentes, Narcis Abdelhamed, Zakia I A Al-Maskari, Ahmed Poulter, James A Mohamed, Moin D Carr, Ian M Morgan, Joanne E Jafri, Hussain Raashid, Yasmin Taylor, Graham R Johnson, Colin A Inglehearn, Chris F Toomes, Carmel Ali, Manir Producer: 20120709 In: Human molecular genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. [electronic resource] by Bramswig, Nuria C Lüdecke, Hermann-Josef Hamdan, Fadi F Altmüller, Janine Beleggia, Filippo Elcioglu, Nursel H Freyer, Catharine Gerkes, Erica H Demirkol, Yasemin Kendir Knupp, Kelly G Kuechler, Alma Li, Yun Lowenstein, Daniel H Michaud, Jacques L Park, Kristen Stegmann, Alexander P A Veenstra-Knol, Hermine E Wieland, Thomas Wollnik, Bernd Engels, Hartmut Strom, Tim M Kleefstra, Tjitske Wieczorek, Dagmar Producer: 20170814 In: Human genetics vol. 136 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 24 results.