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	1.	Ciliary disorder of the skeleton. [electronic resource] by Huber, Celine Cormier-Daire, Valerie Producer: 20130212 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 160C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	The 3M syndrome. [electronic resource] by Huber, Céline Munnich, Arnold Cormier-Daire, Valerie Producer: 20110705 In: Best practice & research. Clinical endocrinology & metabolism vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Severe, atypical form of dyschondrosteosis (report of two cases). [electronic resource] by Bieganski, Tadeusz Bik, Krzysztof Cormier-Daire, Valerie Huber, Celine Nowicki, Grzegorz Kozlowski, Kazimierz Producer: 20060511 In: European journal of pediatrics vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy. [electronic resource] by Lefebvre, Suzie Burlet, Philippe Viollet, Louis Bertrandy, Solange Huber, Céline Belser, Caroline Munnich, Arnold Producer: 20020923 In: Human molecular genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Feasibility of cardiopulmonary exercise testing and training using a robotics-assisted tilt table in dependent-ambulatory stroke patients. [electronic resource] by Saengsuwan, Jittima Huber, Celine Schreiber, Jonathan Schuster-Amft, Corina Nef, Tobias Hunt, Kenneth J Producer: 20160516 In: Journal of neuroengineering and rehabilitation vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	A new osteogenesis imperfecta with improvement over time maps to 11q. [electronic resource] by Kamoun-Goldrat, Agnès Pannier, Stéphanie Huber, Céline Finidori, Georges Munnich, Arnold Cormier-Daire, Valérie Le Merrer, Martine Producer: 20080820 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Clinical and radiological characteristics of 22 children with SHOX anomalies and familial short stature suggestive of Léri-Weill Dyschondrosteosis. [electronic resource] by Salmon-Musial, Anne-Sophie Rosilio, Myriam David, Michel Huber, Céline Pichot, Emmanuel Cormier-Daire, Valérie Nicolino, Marc Producer: 20120201 In: Hormone research in paediatrics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Hip dislocation in 3-M syndrome: risk of misdiagnosis. [electronic resource] by Badina, Alina Pejin, Zagorka Odent, Thierry Buzescu, Alexandru Huber, Céline Cormier-Daire, Valérie Glorion, Christophe Pannier, Stéphanie Producer: 20110627 In: Clinical dysmorphology vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. [electronic resource] by Benito-Sanz, Sara Thomas, N Simon Huber, Céline Huber, Celine Gorbenko del Blanco, Darya Del Blanco, Darya Gorbenko Aza-Carmona, Miriam Crolla, John A Maloney, Vivienne Rappold, Gudrun Argente, Jesús Argente, Jesus Campos-Barros, Angel Cormier-Daire, Valérie Cormier-Daire, Valerie Heath, Karen E Producer: 20051115 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX. [electronic resource] by Reish, Orit Huber, Céline Altarescu, Gheona Chapman-Shimshoni, Daphne Levy-Lahad, Ephrat Renbaum, Paul Mashevich, Maya Munnich, Arnold Cormier-Daire, Valérie Producer: 20110830 In: American journal of medical genetics. Part A vol. 155A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. [electronic resource] by Reish, Orit Huber, Céline Altarescu, Gheona Chapman-Shimshoni, Daphne Levy-Lahad, Ephrat Renbaum, Paul Mashevich, Maya Munnich, Arnold Cormier-Daire, Valérie Producer: 20101215 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)
	12.	IMPAD1 mutations in two Catel-Manzke like patients. [electronic resource] by Nizon, Mathilde Alanay, Yasemin Tuysuz, Beyhan Kiper, Pelin Ozlem Simsek Geneviève, David Sillence, David Huber, Celine Munnich, Arnold Cormier-Daire, Valérie Producer: 20121109 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	XYLT1 mutations in Desbuquois dysplasia type 2. [electronic resource] by Bui, Catherine Huber, Céline Tuysuz, Beyhan Alanay, Yasemin Bole-Feysot, Christine Leroy, Jules G Mortier, Geert Nitschke, Patrick Munnich, Arnold Cormier-Daire, Valérie Producer: 20140501 In: American journal of human genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. [electronic resource] by Unal, Sule Alanay, Yasemin Cetin, Mualla Boduroglu, Koray Utine, Eda Cormier-Daire, Valerie Huber, Celine Ozsurekci, Yasemin Kilic, Esra Simsek Kiper, Ozlem Pelin Gumruk, Fatma Producer: 20140225 In: Pediatric blood & cancer vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. [electronic resource] by Dagoneau, Nathalie Benoist-Lasselin, Catherine Huber, Céline Faivre, Laurence Mégarbané, André Alswaid, Abdulrahman Dollfus, Hélène Alembik, Yves Munnich, Arnold Legeai-Mallet, Laurence Cormier-Daire, Valérie Producer: 20050103 In: American journal of human genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome. [electronic resource] by Bacrot, Séverine Doyard, Mathilde Huber, Céline Alibeu, Olivier Feldhahn, Niklas Lehalle, Daphné Lacombe, Didier Marlin, Sandrine Nitschke, Patrick Petit, Florence Vazquez, Marie-Paule Munnich, Arnold Cormier-Daire, Valérie Producer: 20151002 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. [electronic resource] by Benito-Sanz, Sara Gorbenko del Blanco, Darya Huber, Celine Thomas, N Simon Aza-Carmona, Miriam Bunyan, David Maloney, Vivienne Argente, Jesús Cormier-Daire, Valérie Campos-Barros, Angel Heath, Karen E Producer: 20060914 In: American journal of human genetics vol. 79 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. [electronic resource] by Huber, Céline Wu, Sulin Kim, Ashley S Sigaudy, Sabine Sarukhanov, Anna Serre, Valérie Baujat, Genevieve Le Quan Sang, Kim-Hanh Rimoin, David L Cohn, Daniel H Munnich, Arnold Krakow, Deborah Cormier-Daire, Valérie Producer: 20131230 In: American journal of human genetics vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region. [electronic resource] by Benito-Sanz, Sara Belinchon-Martínez, Alberta Aza-Carmona, Miriam de la Torre, Carolina Huber, Celine González-Casado, Isabel Ross, Judith L Thomas, N Simon Zinn, Andrew R Cormier-Daire, Valerie Heath, Karen E Producer: 20170524 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)
	20.	Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. [electronic resource] by Cavalcanti, Denise P Huber, Celine Sang, Kim-Hanh Le Quan Baujat, Geneviève Collins, Felicity Delezoide, Anne-Lise Dagoneau, Nathalie Le Merrer, Martine Martinovic, Jelena Mello, Marcos Fernando S Vekemans, Michel Munnich, Arnold Cormier-Daire, Valerie Producer: 20110602 In: Journal of medical genetics vol. 48 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 34 results.