Your search returned 99 results.

Results
	1.	Dysmorphology and the orbital region: a practical clinical approach. [electronic resource] by Dollfus, Hélène Verloes, Alain Producer: 20050106 In: Survey of ophthalmology vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	[Vision disorders in children: what type of genetic counseling?]. [electronic resource] by Dollfus, Helene Pelletier, Valerie Producer: 20080508 In: La Revue du praticien vol. 57 Availability: No items available. Save to lists Add to cart (remove)
	3.	Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation. [electronic resource] by Magnin, Eloi Allibert, Remi Berger, Eric Dollfus, Helene Rumbach, Lucien Producer: 20120827 In: European neurology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. [electronic resource] by Frouin, Eric Laugel, Vincent Durand, Myriam Dollfus, Hélène Lipsker, Dan Producer: 20140219 In: JAMA dermatology vol. 149 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. [electronic resource] by Kaplan, Josseline Perrault, Isabelle Hanein, Sylvain Dollfus, Hélène Rozet, Jean-Michel Producer: 20130401 In: Medecine sciences : M/S vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches]. [electronic resource] by Chennen, Kirsley Scerbo, Maria Julia Dollfus, Hélène Poch, Olivier Marion, Vincent Producer: 20150316 In: Medecine sciences : M/S vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Natural TWIST protein variants in a panel of eleven non-human primates: possible implications of TWIST gene-tree for primate species tree. [electronic resource] by Gachot-Neveu, Hélène Stoetzel, Corinne Quillet, Renaud Dollfus, Hélène Perrin-Schmitt, Fabienne Producer: 20030716 In: Development genes and evolution vol. 212 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome? [electronic resource] by Gaertner, Sébastien Alembik, Yves Cordeanu, Elena-Mihaela Dollfus, Hélène Lejay, Anne Chakfe, Nabil Stephan, Dominique Producer: 20141104 In: International journal of cardiology vol. 172 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. [electronic resource] by Vincent, Marie-Claire Gallai, Raffaella Olivier, David Speeg-Schatz, Claude Flament, Jacques Calvas, Patrick Dollfus, Hélène Producer: 20050118 In: American journal of ophthalmology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. [electronic resource] by Dollfus, Hélène Muller, Jean Stoetzel, Corinne Laurier, Virginie Bonneau, Dominique Mégarbané, André Poch, Olivier Mandel, Jean-Louis Producer: 20070129 In: Medecine sciences : M/S vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Ocular manifestations in the inherited DNA repair disorders. [electronic resource] by Dollfus, Hélène Porto, Fernanda Caussade, Patrick Speeg-Schatz, Claude Sahel, José Grosshans, Edouard Flament, Jacques Sarasin, Alain Producer: 20030304 In: Survey of ophthalmology vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype. [electronic resource] by Aliferis, Konstantinos Stoetzel, Corinne Pelletier, Valérie Hellé, Sophie Angioï-Duprez, Karine Vigneron, Jacqueline Leheup, Bruno Marion, Vincent Dollfus, Hélène Producer: 20120113 In: Ophthalmic genetics vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. [electronic resource] by Mockel, Anais Obringer, Cathy Hakvoort, Theodorus B M Seeliger, Mathias Lamers, Wouter H Stoetzel, Corinne Dollfus, Hélène Marion, Vincent Producer: 20130107 In: The Journal of biological chemistry vol. 287 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. [electronic resource] by Dollfus, Hélène Biswas, Partha Kumaramanickavel, Govindsamy Stoetzel, Corinne Quillet, Renaud Biswas, Jyotirmay Lajeunie, Elisabeth Renier, Dominique Perrin-Schmitt, Fabienne Producer: 20020808 In: American journal of medical genetics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. [electronic resource] by Marion, Vincent Stoetzel, Corinne Schlicht, Dominique Messaddeq, Nadia Koch, Michael Flori, Elisabeth Danse, Jean Marc Mandel, Jean-Louis Dollfus, Hélène Producer: 20090310 In: Proceedings of the National Academy of Sciences of the United States of America vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	A possible cranio-oro-facial phenotype in Cockayne syndrome. [electronic resource] by Bloch-Zupan, Agnès Rousseaux, Morgan Laugel, Virginie Schmittbuhl, Matthieu Mathis, Rémy Desforges, Emmanuelle Koob, Mériam Zaloszyc, Ariane Dollfus, Hélène Laugel, Vincent Producer: 20130916 In: Orphanet journal of rare diseases vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. [electronic resource] by Marion, Vincent Schlicht, Dominique Mockel, Anaïs Caillard, Sophie Imhoff, Olivier Stoetzel, Corinne van Dijk, Paul Brandt, Christian Moulin, Bruno Dollfus, Hélène Producer: 20110805 In: Kidney international vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. [electronic resource] by Dollfus, Hélène Massin, Pascale Taupin, Pierre Nemeth, Catherine Amara, Sandrine Giraud, Sophie Béroud, Christophe Dureau, Pascal Gaudric, Alain Landais, Paul Richard, Stéphane Producer: 20020912 In: Investigative ophthalmology & visual science vol. 43 Availability: No items available. Save to lists Add to cart (remove)
	19.	BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. [electronic resource] by Stoetzel, Corinne Laurier, Virginie Faivre, Laurence Mégarbané, André Perrin-Schmitt, Fabienne Verloes, Alain Bonneau, Dominique Mandel, Jean-Louis Cossee, Mireille Dollfus, Hélène Producer: 20060302 In: Journal of human genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. [electronic resource] by Minn, David Christmann, Dominique De Saint-Martin, Anne Alembik, Yves Eliot, Mylène Mack, Geneviève Fischbach, Michel Flament, Jacques Veillon, Francis Dollfus, Hélène Producer: 20020808 In: American journal of medical genetics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

1
2
3
4
5
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 99 results.