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	1.	Genetic Advances in Microphthalmia. [electronic resource] by Plaisancie, Julie Calvas, Patrick Chassaing, Nicolas Publication details: Journal of pediatric genetics Dec 2016 In: Journal of pediatric genetics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Mutations in the newly identified RAX regulatory sequence are not a frequent cause of micro/anophthalmia. [electronic resource] by Chassaing, Nicolas Vigouroux, Adeline Calvas, Patrick Producer: 20090723 In: Genetic testing and molecular biomarkers vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	The authors reply. [electronic resource] by Faguer, Stanislas Chauveau, Dominique Decramer, Stéphane Chassaing, Nicolas Producer: 20150728 In: Kidney international vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mutations in the RARE and MARE regulatory sequences of HNF1β are not a frequent cause of kidney/urinary tract malformation. [electronic resource] by Faguer, Stanislas Chauveau, Dominique Decramer, Stéphane Chassaing, Nicolas Producer: 20150518 In: NDT plus vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Contribution of ABCC6 genomic rearrangements to the diagnosis of pseudoxanthoma elasticum in French patients. [electronic resource] by Chassaing, Nicolas Martin, Ludovic Bourthoumieu, Sylvie Calvas, Patrick Hovnanian, Alain Producer: 20071023 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)? [electronic resource] by Faguer, Stanislas Chassaing, Nicolas Bandin, Flavio Prouheze, Cathie Chauveau, Dominique Decramer, Stéphane Producer: 20130425 In: European journal of medical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. [electronic resource] by Desmaison, Annaïck Vigouroux, Adeline Rieubland, Claudine Peres, Christine Calvas, Patrick Chassaing, Nicolas Producer: 20110208 In: Molecular vision vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	8.	[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease]. [electronic resource] by Chauveau, Dominique Faguer, Stanislas Bandin, Flavio Guigonis, Vincent Chassaing, Nicolas Decramer, Stéphane Producer: 20140801 In: Nephrologie & therapeutique vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Donnai-Barrow syndrome: four additional patients. [electronic resource] by Chassaing, Nicolas Lacombe, Didier Carles, Dominique Calvas, Patrick Saura, Robert Bieth, Eric Producer: 20031212 In: American journal of medical genetics. Part A vol. 121A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. [electronic resource] by Sadowski, Samantha Chassaing, Nicolas Gaj, Zuzanna Czichos, Ewa Wilczynski, Jan Nowakowska, Dorota Producer: 20180601 In: Birth defects research vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis. [electronic resource] by Severino-Freire, Maella Jonca, Nathalie Pichery, Melanie Tournier, Emilie Chassaing, Nicolas Mazereeuw-Hautier, Juliette Producer: 20170320 In: Acta dermato-venereologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. [electronic resource] by Faguer, Stanislas Pillet, Adèle Chassaing, Nicolas Merhenberger, Marion Bernadet-Monrozies, Pauline Guitard, Joëlle Chauveau, Dominique Producer: 20090807 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients. [electronic resource] by Severino-Freire, Maella Maza, Aude Lombardi, Maria Paola Tournier, Emilie Chassaing, Nicolas Mazereeuw-Hautier, Juliette Producer: 20180416 In: Acta dermato-venereologica vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Acquired pseudoxanthoma elasticum presenting after liver transplantation. [electronic resource] by Bercovitch, Lionel Martin, Ludovic Chassaing, Nicolas Hefferon, Timothy W Bessis, Didier Vanakker, Olivier Terry, Sharon F Producer: 20110630 In: Journal of the American Academy of Dermatology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Novel ABCC6 mutations in pseudoxanthoma elasticum. [electronic resource] by Chassaing, Nicolas Martin, Ludovic Mazereeuw, Juliette Barrié, Laurence Nizard, Sonia Bonafé, Jean-Louis Calvas, Patrick Hovnanian, Alain Producer: 20040525 In: The Journal of investigative dermatology vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. [electronic resource] by Martin, Ludovic Maître, Frédéric Bonicel, Pierre Daudon, Patrick Verny, Christophe Bonneau, Dominique Le Saux, Olivier Chassaing, Nicolas Producer: 20080424 In: Archives of dermatology vol. 144 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	[Finger agenesis after in utero exposure to ketoconazole: a case report]. [electronic resource] by Cabou, Cendrine Lacroix, Isabelle Rista, Cristina Rolland, Michel Chassaing, Nicolas Calvas, Patrick Montastruc, Jean-Louis Damase-Michel, Christine Producer: 20031027 In: Therapie vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement. [electronic resource] by Chassaing, Nicolas Gilbert-Dussardier, Brigitte Nicot, Florence Fermeaux, Véronique Encha-Razavi, Férechté Fiorenza, Maryse Toutain, Annick Calvas, Patrick Producer: 20070424 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)
	19.	Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma. [electronic resource] by Guinard, Elisabeth Legendre, Laureline Kramkimel, Nora Avril, Marie Françoise Chassaing, Nicolas Cabaret, Odile Guillaud-Bataille, Marine Mazereeuw Hautier, Juliette Producer: 20170425 In: Dermatology (Basel, Switzerland) vol. 232 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. [electronic resource] by Chassaing, Nicolas Kanitakis, Jean Sportich, Stéphanie Cordier-Alex, Marie-Pierre Titeux, Matthias Calvas, Patrick Claudy, Alain Berbis, P Hovnanian, Alain Producer: 20061214 In: The Journal of investigative dermatology vol. 126 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 60 results.