Your search returned 531 results.

Results
	501.	Dystonia with and without deafness is caused by TIMM8A mutation. [electronic resource] by Swerdlow, Russell H Juel, Vern C Wooten, G Frederick Producer: 20031023 In: Advances in neurology vol. 94 Availability: No items available. Save to lists Add to cart (remove)
	502.	Anesthetic management of a newborn with Mohr (oro-facial-digital type II) syndrome. [electronic resource] by Gerçek, Arzu Dagcinar, Adnan Ozek, M Memet Producer: 20070726 In: Paediatric anaesthesia vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	503.	Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease. [electronic resource] by Iijima, Takashi Hoshino, Junichi Mise, Koki Sumida, Keiichi Suwabe, Tatsuya Hayami, Noriko Ueno, Toshiharu Takaichi, Kenmei Fujii, Takeshi Ohashi, Kenichi Morisada, Naoya Iijima, Kazumoto Ubara, Yoshifumi Producer: 20170822 In: Human pathology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	504.	Pilosebaceous dysplasia in the oral-facial-digital syndrome. [electronic resource] by Solomon, L M Fretzin, D Pruzansky, S Producer: 19710415 In: Archives of dermatology vol. 102 Availability: No items available. Save to lists Add to cart (remove)
	505.	A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. [electronic resource] by Emes, R D Ponting, C P Producer: 20020313 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	506.	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. [electronic resource] by Roberson, Elle C Dowdle, William E Ozanturk, Aysegul Garcia-Gonzalo, Francesc R Li, Chunmei Halbritter, Jan Elkhartoufi, Nadia Porath, Jonathan D Cope, Heidi Ashley-Koch, Allison Gregory, Simon Thomas, Sophie Sayer, John A Saunier, Sophie Otto, Edgar A Katsanis, Nicholas Davis, Erica E Attié-Bitach, Tania Hildebrandt, Friedhelm Leroux, Michel R Reiter, Jeremy F Producer: 20150622 In: The Journal of cell biology vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	507.	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. [electronic resource] by Bayram, Yavuz Aydin, Hatip Gambin, Tomasz Akdemir, Zeynep Coban Atik, Mehmed M Karaca, Ender Karaman, Ali Pehlivan, Davut Jhangiani, Shalini N Gibbs, Richard A Lupski, James R Producer: 20160519 In: American journal of medical genetics. Part A vol. 167A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	508.	Twin fetuses with abnormalities that overlap with three midline malformation complexes. [electronic resource] by Hingorani, S R Pagon, R A Shepard, T H Kapur, R P Producer: 19920316 In: American journal of medical genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	509.	Mohr syndrome or oral-facial-digital II: report of two cases. [electronic resource] by Goldstein, E Medina, J L Producer: 19741005 In: Journal of the American Dental Association (1939) vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	510.	Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. [electronic resource] by Shaheen, Ranad Jiang, Nan Alzahrani, Fatema Ewida, Nour Al-Sheddi, Tarfa Alobeid, Eman Musaev, Damir Stanley, Valentina Hashem, Mais Ibrahim, Niema Abdulwahab, Firdous Alshenqiti, Abduljabbar Sonmez, Fatma Mujgan Saqati, Nadia Alzaidan, Hamad Al-Qattan, Mohammad M Al-Mohanna, Futwan Gleeson, Joseph G Alkuraya, Fowzan S Producer: 20200203 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	511.	X inactivation, female mosaicism, and sex differences in renal diseases. [electronic resource] by Migeon, Barbara R Producer: 20081112 In: Journal of the American Society of Nephrology : JASN vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	512.	The radial clubhand. [electronic resource] by Goldberg, M J Meyn, M Producer: 19760706 In: The Orthopedic clinics of North America vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	513.	Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import. [electronic resource] by Ahting, Uwe Floss, Thomas Uez, Nikolas Schneider-Lohmar, Ilka Becker, Lore Kling, Eva Iuso, Arcangela Bender, Andreas de Angelis, Martin Hrabé Gailus-Durner, Valérie Fuchs, Helmut Meitinger, Thomas Wurst, Wolfgang Prokisch, Holger Klopstock, Thomas Producer: 20090728 In: Biochimica et biophysica acta vol. 1787 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	514.	ojoplano-mediated basal constriction is essential for optic cup morphogenesis. [electronic resource] by Martinez-Morales, Juan Ramon Rembold, Martina Greger, Klaus Simpson, Jeremy C Brown, Katherine E Quiring, Rebecca Pepperkok, Rainer Martin-Bermudo, Maria D Himmelbauer, Heinz Wittbrodt, Joachim Producer: 20090921 In: Development (Cambridge, England) vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	515.	X-linked dominant inherited diseases with lethality in hemizygous males. [electronic resource] by Wettke-Schäfer, R Kantner, G Producer: 19830909 In: Human genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	516.	Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. [electronic resource] by Carelli, Valerio La Morgia, Chiara Valentino, Maria Lucia Barboni, Piero Ross-Cisneros, Fred N Sadun, Alfredo A Producer: 20090728 In: Biochimica et biophysica acta vol. 1787 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	517.	A novel chromosomal aberration in a child with suspected Juberg-Hayward syndrome. [electronic resource] by Berger, Michael Rost, Imma Schmidt, Heinrich 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)
	518.	C5orf42 is the major gene responsible for OFD syndrome type VI. [electronic resource] by Lopez, Estelle Thauvin-Robinet, Christel Reversade, Bruno Khartoufi, Nadia El Devisme, Louise Holder, Muriel Ansart-Franquet, Hélène Avila, Magali Lacombe, Didier Kleinfinger, Pascale Kaori, Irahara Takanashi, Jun-Ichi Le Merrer, Martine Martinovic, Jelena Noël, Catherine Shboul, Mohammad Ho, Lena Güven, Yeliz Razavi, Ferechté Burglen, Lydie Gigot, Nadège Darmency-Stamboul, Véronique Thevenon, Julien Aral, Bernard Kayserili, Hülya Huet, Frédéric Lyonnet, Stanislas Le Caignec, Cédric Franco, Brunella Rivière, Jean-Baptiste Faivre, Laurence Attié-Bitach, Tania Producer: 20140407 In: Human genetics vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	519.	Utilizing the chicken as an animal model for human craniofacial ciliopathies. [electronic resource] by Schock, Elizabeth N Chang, Ching-Fang Youngworth, Ingrid A Davey, Megan G Delany, Mary E Brugmann, Samantha A Producer: 20170626 In: Developmental biology vol. 415 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	520.	Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. [electronic resource] by Roosing, Susanne Romani, Marta Isrie, Mala Rosti, Rasim Ozgur Micalizzi, Alessia Musaev, Damir Mazza, Tommaso Al-Gazali, Lihadh Altunoglu, Umut Boltshauser, Eugen D'Arrigo, Stefano De Keersmaecker, Bart Kayserili, Hülya Brandenberger, Sarah Kraoua, Ichraf Mark, Paul R McKanna, Trudy Van Keirsbilck, Joachim Moerman, Philippe Poretti, Andrea Puri, Ratna Van Esch, Hilde Gleeson, Joseph G Valente, Enza Maria Producer: 20171031 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 531 results.