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	21.	Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation. [electronic resource] by Bayar, Ahmet Acun, Ceyda Dursun, Ahmet Verhoeven, Nanda Bonafé, Luisa Keser, Selçuk Superti-Furga, Andrea Producer: 20050526 In: Clinical dysmorphology vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	22.	Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. [electronic resource] by Mäkitie, Outi Savarirayan, Ravi Bonafé, Luisa Robertson, Stephen Susic, Miki Superti-Furga, Andrea Cole, William G Producer: 20040422 In: American journal of medical genetics. Part A vol. 122A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. [electronic resource] by Fernandez-Aguilar, Sergio Noël, Jean-Christophe Van Regemorter, Nicole Superti-Furga, Andrea Bonafé, Luisa Donner, Catherine Producer: 20060629 In: Prenatal diagnosis vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. [electronic resource] by Meili, David Kralovicova, Jana Zagalak, Julian Bonafé, Luisa Fiori, Laura Blau, Nenad Thöny, Beat Vorechovsky, Igor Producer: 20090730 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta. [electronic resource] by Lindert, Uschi Kraenzlin, Marius Campos-Xavier, Ana Belinda Baumgartner, Matthias R Bonafé, Luisa Giunta, Cecilia Rohrbach, Marianne Producer: 20160425 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)
	26.	Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives. [electronic resource] by Bregou Bourgeois, Aline Aubry-Rozier, Bérengère Bonafé, Luisa Laurent-Applegate, Lee Pioletti, Dominique P Zambelli, Pierre-Yves Producer: 20170328 In: Swiss medical weekly vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. [electronic resource] by Fiege, Betina Bonafé, Luisa Ballhausen, Diana Baumgartner, Matthias Thöny, Beat Meili, David Fiori, Laura Giovannini, Marcello Blau, Nenad Producer: 20060522 In: Molecular genetics and metabolism vol. 86 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Early neurological impairment and severe anemia in a newborn with Pearson syndrome. [electronic resource] by Morel, Anne-Sophie Joris, Nadia Meuli, Reto Jacquemont, Sébastien Ballhausen, Diana Bonafé, Luisa Fattet, Sarah Tolsa, Jean-François Producer: 20090527 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling. [electronic resource] by Capurro, Mariana Izumikawa, Tomomi Suarez, Philippe Shi, Wen Cydzik, Marzena Kaneiwa, Tomoyuki Gariepy, Jean Bonafe, Luisa Filmus, Jorge Producer: 20171004 In: The Journal of cell biology vol. 216 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type. [electronic resource] by Rieubland, Claudine Jacquemont, Sebastien Mittaz, Laureane Osterheld, Maria-Chiara Vial, Yvan Superti-Furga, Andrea Unger, Sheila Bonafé, Luisa Producer: 20110111 In: European journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. [electronic resource] by Ballhausen, Diana Guerry, Frédéric Hahn, Dagmar Schaller, André Nuoffer, Jean-Marc Bonafé, Luisa Jeannet, Pierre-Yves Jacquemont, Sebastien Producer: 20140408 In: Journal of inherited metabolic disease vol. 33 Suppl 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. [electronic resource] by Zankl, Andreas Pachman, Lauren Poznanski, Andrew Bonafé, Luisa Wang, Fengqiang Shusterman, Yelena Fishman, David A Superti-Furga, Andrea Producer: 20070320 In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. [electronic resource] by Ha-Vinh, Russia Alanay, Yasemin Bank, Ruud A Campos-Xavier, Ana Belinda Zankl, Andreas Superti-Furga, Andrea Bonafé, Luisa Producer: 20050505 In: American journal of medical genetics. Part A vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. [electronic resource] by Tan, Tiong Yang McGillivray, George Kornman, Louise Fink, A Michelle Superti-Furga, Andrea Bonafé, Luisa Francis, David I Savarirayan, Ravi Producer: 20050705 In: American journal of medical genetics. Part A vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation. [electronic resource] by Simsek-Kiper, Pelin Ozlem Dikoglu, Esra Campos-Xavier, Belinda Utine, Gulen Eda Bonafe, Luisa Unger, Sheila Boduroglu, Koray Superti-Furga, Andrea Producer: 20150604 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)
	36.	Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome. [electronic resource] by Dikoglu, Esra Simsek-Kiper, Pelin Ozlem Utine, Gulen Eda Campos-Xavier, Belinda Boduroglu, Koray Bonafé, Luisa Superti-Furga, Andrea Unger, Sheila Producer: 20140702 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. [electronic resource] by Zankl, Andreas Zabel, Bernhard Hilbert, Katja Wildhardt, Gabi Cuenot, Segoleine Xavier, Belinda Ha-Vinh, Russia Bonafé, Luisa Spranger, Jürgen Superti-Furga, Andrea Producer: 20050318 In: American journal of medical genetics. Part A vol. 129A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. [electronic resource] by Jequier Gygax, Marine Roulet-Perez, Eliane Meagher-Villemure, Kathleen Jakobs, Cornelis Salomons, Gajja S Boulat, Olivier Superti-Furga, Andrea Ballhausen, Diana Bonafé, Luisa Producer: 20090915 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	[Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): clinical manifestations and multidisciplinary management]. [electronic resource] by Frigerio, Cecilia Aebischer, Nicole Baud, David Bonafe, Luisa Fellmanne, Florence Ikonomidis, Christos Mazzolai, Lucia Michel, Patrik Nichita, Cristina Qanadli, Salah Dine Lazor, Romain Producer: 20160708 In: Revue medicale suisse vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	40.	Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. [electronic resource] by Ferriero, Rosa Boutron, Audrey Brivet, Michele Kerr, Douglas Morava, Eva Rodenburg, Richard J Bonafé, Luisa Baumgartner, Matthias R Anikster, Yair Braverman, Nancy E Brunetti-Pierri, Nicola Producer: 20141030 In: Annals of clinical and translational neurology vol. 1 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 88 results.