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	461.	Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. [electronic resource] by Bonnard, Carine Shboul, Mohammad Tonekaboni, Seyed Hassan Ng, Alvin Yu Jin Tohari, Sumanty Ghosh, Kakaly Lai, Angeline Lim, Jiin Ying Tan, Ene Choo Devisme, Louise Stichelbout, Morgane Alkindi, Adila Banu, Nazreen Yüksel, Zafer Ghoumid, Jamal Elkhartoufi, Nadia Boutaud, Lucile Micalizzi, Alessia Brett, Maggie Siewyan Venkatesh, Byrappa Valente, Enza Maria Attié-Bitach, Tania Reversade, Bruno Kariminejad, Ariana Producer: 20181211 In: European journal of medical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	462.	Developmental disorders of the dentition: an update. [electronic resource] by Klein, Ophir D Oberoi, Snehlata Huysseune, Ann Hovorakova, Maria Peterka, Miroslav Peterkova, Renata Producer: 20140528 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 163C Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	463.	The lines of Blaschko: a developmental pattern visualizing functional X-chromosome mosaicism. [electronic resource] by Happle, R Producer: 19870727 In: Current problems in dermatology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	464.	Micrognathia and glossoptosis in the newborn. Surgical tacking of the tongue in small jaw syndromes. [electronic resource] by Hawkins, D B Simpson, J V Producer: 19750310 In: Clinical pediatrics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	465.	[Combination of hydantoins and valproate. Evidence of its teratogenic effect in 4 consecutive gestations]. [electronic resource] by Durá, T Moya, M Muñoz, M Juste, M Castaño, C Producer: 19870330 In: Anales espanoles de pediatria vol. 25 Availability: No items available. Save to lists Add to cart (remove)
	466.	Ofd1, a human disease gene, regulates the length and distal structure of centrioles. [electronic resource] by Singla, Veena Romaguera-Ros, Miriam Garcia-Verdugo, Jose Manuel Reiter, Jeremy F Producer: 20100412 In: Developmental cell vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	467.	Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes. [electronic resource] by Ghosh, Sujoy Setty, Suhas Sivakumar, A Pai, Keerthilatha M Producer: 20070514 In: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	468.	Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1. [electronic resource] by Shimojima, Keiko Shimada, Shino Sugawara, Midori Yoshikawa, Naomi Niijima, Shinichi Urao, Masahiko Yamamoto, Toshiyuki Producer: 20141203 In: Congenital anomalies vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	469.	Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. [electronic resource] by Abramowicz, Iga Carpenter, Gillian Alfieri, Mariaevelina Colnaghi, Rita Outwin, Emily Parent, Philippe Thauvin-Robinet, Christel Iaconis, Daniela Franco, Brunella O'Driscoll, Mark Producer: 20170926 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	470.	Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. [electronic resource] by Shamseldin, Hanan E Rajab, Anna Alhashem, Amal Shaheen, Ranad Al-Shidi, Tarfa Alamro, Rana Al Harassi, Salma Alkuraya, Fowzan S Producer: 20131105 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)
	471.	Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. [electronic resource] by Hammarsjö, A Wang, Z Vaz, R Taylan, F Sedghi, M Girisha, K M Chitayat, D Neethukrishna, K Shannon, P Godoy, R Gowrishankar, K Lindstrand, A Nasiri, J Baktashian, M Newton, P T Guo, L Hofmeister, W Pettersson, M Chagin, A S Nishimura, G Yan, L Matsumoto, N Nordgren, A Miyake, N Grigelioniene, G Ikegawa, S Producer: 20190709 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	472.	The ciliogenic protein Oral-Facial-Digital 1 regulates the neuronal differentiation of embryonic stem cells. [electronic resource] by Hunkapiller, Julie Singla, Veena Seol, Allen Reiter, Jeremy F Producer: 20110913 In: Stem cells and development vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	473.	Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review. [electronic resource] by Zhang, Kaihui Meng, Chen Ma, Jing Gao, Min Lv, Yuqiang Liu, Yi Gai, Zhongtao Producer: 20171127 In: Clinical dysmorphology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	474.	The genetics of hand malformations. [electronic resource] by Temtamy, S A McKusick, V A Producer: 19790313 In: Birth defects original article series vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	475.	Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). [electronic resource] by Gustavson, K H Kreuger, A Petersson, P O Producer: 19720628 In: Clinical genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	476.	Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene. [electronic resource] by Blesa, José Rafael Solano, Abelardo Briones, Paz Prieto-Ruiz, Jesús Angel Hernández-Yago, José Coria, Francisco Producer: 20080130 In: Neuromolecular medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	477.	A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. [electronic resource] by Aljeaid, Deema Lombardo, Rachel C Witte, David P Hopkin, Robert J Producer: 20200610 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	478.	Analysis of interdigital spaces during mouse limb development at intervals following amniotic sac puncture. [electronic resource] by Chang, H H Tse, Y Kaufman, M H Producer: 19980514 In: Journal of anatomy vol. 192 ( Pt 1) Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	479.	The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype. [electronic resource] by Al-Qattan, Mohammad M Al Balwi, Mohammed A Producer: 20131018 In: Gene vol. 526 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	480.	The genetics of hand malformations. [electronic resource] by Temtamy, S A McKusick, V A Producer: 19790313 In: Birth defects original article series vol. 14 Availability: No items available. Save to lists Add to cart (remove)

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