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	41.	Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. [electronic resource] by Li, Ben C Hogue, Jacob Eilers, Meg Mehrotra, Pavni Hyland, James Holm, Tara Prosen, Tracy Slavotinek, Anne M Producer: 20130805 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)
	42.	Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. [electronic resource] by Darras, Natasha Ha, Thoa K Rego, Shannon Martin, Pierre-Marie Barroso, Eva Slavotinek, Anne M Cilio, Maria R Producer: 20200804 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)
	43.	Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. [electronic resource] by LopezJimenez, Nelson Gerber, Simon Popovici, Vlad Mirza, Sonia Copren, Kirsten Ta, Linda Shaw, Gary M Trueb, Beat Slavotinek, Anne M Producer: 20100405 In: Human genetics vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? [electronic resource] by Slavotinek, Anne M Dutra, Amalia Kpodzo, Dzifa Pak, Evgenia Nakane, Takaya Turner, Joyce Whiteford, Margo Biesecker, Leslie G Stratton, Pamela Producer: 20050105 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)
	45.	Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. [electronic resource] by Pua, Heather H Krishnamurthi, Swetha Farrell, Jessica Margeta, Marta Ursell, Philip C Powers, Martin Slavotinek, Anne M Jeng, Linda J B Producer: 20150413 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)
	46.	Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract. [electronic resource] by Kuo, Debbie S Sokol, Jared T Minogue, Peter J Berthoud, Viviana M Slavotinek, Anne M Beyer, Eric C Gould, Douglas B Producer: 20171013 In: PloS one vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. [electronic resource] by Jimenez, Nelson Lopez Flannick, Jason Yahyavi, Mani Li, Jiang Bardakjian, Tanya Tonkin, Leath Schneider, Adele Sherr, Elliott H Slavotinek, Anne M Producer: 20120306 In: BMC medical genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. [electronic resource] by Flores Pimentel, Mariana A De la Huerta, Irina Duncan, Jacque L Slavotinek, Anne M Moore, Anthony T de Alba Campomanes, Alejandra G Producer: 20211029 In: Retinal cases & brief reports vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation. [electronic resource] by Slavotinek, Anne M Rosenfeld, Jill A Chao, Ryan Niyazov, Dimitry Eswara, Marthand Bader, Patricia I Stockton, David W Stankiewicz, Pawel Adam, Margaret P Producer: 20110801 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)
	50.	Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura. [electronic resource] by Wyszynski, Diego F Carman, Wendy J Cantor, Alan B Graham, John M Kunz, Liza H Slavotinek, Anne M Kirby, Russell S Seeger, John Producer: 20161213 In: Journal of pregnancy vol. 2016 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. [electronic resource] by Slavotinek, Anne M Moshrefi, Ali Davis, Randy Leeth, Elizabeth Schaeffer, G Bradley Burchard, González Esteban Shaw, Gary M James, Bristow Ptacek, Louis Pennacchio, Len A Producer: 20060926 In: European journal of human genetics : EJHG vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans. [electronic resource] by Slavotinek, Anne M Chao, Ryan Vacik, Tomas Yahyavi, Mani Abouzeid, Hana Bardakjian, Tanya Schneider, Adele Shaw, Gary Sherr, Elliott H Lemke, Greg Youssef, Mohammed Schorderet, Daniel F Producer: 20120514 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. [electronic resource] by Hilton, Emma N Manson, Forbes D C Urquhart, Jill E Johnston, Jennifer J Slavotinek, Anne M Hedera, Peter Stattin, Eva-Lena Nordgren, Ann Biesecker, Leslie G Black, Graeme C M Producer: 20070914 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. [electronic resource] by Yahyavi, Mani Abouzeid, Hana Gawdat, Ghada de Preux, Anne-Sophie Xiao, Tong Bardakjian, Tanya Schneider, Adele Choi, Alex Jorgenson, Eric Baier, Herwig El Sada, Mohamad Schorderet, Daniel F Slavotinek, Anne M Producer: 20140206 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. [electronic resource] by Cafiero, Concetta Marangi, Giuseppe Orteschi, Daniela Ali, Marwan Asaro, Alessia Ponzi, Emanuela Moncada, Alice Ricciardi, Stefania Murdolo, Marina Mancano, Giorgia Contaldo, Ilaria Leuzzi, Vincenzo Battaglia, Domenica Mercuri, Eugenio Slavotinek, Anne M Zollino, Marcella Producer: 20160506 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. [electronic resource] by Krall, Max Htun, Stephanie Schnur, Rhonda E Brooks, Alice S Baker, Laura de Alba Campomanes, Alejandra Lamont, Ryan E Gripp, Karen W Schneidman-Duhovny, Dina Innes, A Micheil Mancini, Grazia M S Slavotinek, Anne M Producer: 20200615 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	DLX4 is associated with orofacial clefting and abnormal jaw development. [electronic resource] by Wu, Di Mandal, Shyamali Choi, Alex Anderson, August Prochazkova, Michaela Perry, Hazel Gil-Da-Silva-Lopes, Vera L Lao, Richard Wan, Eunice Tang, Paul Ling-Fung Kwok, Pui-yan Klein, Ophir Zhuan, Bian Slavotinek, Anne M Producer: 20160517 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	58.	A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. [electronic resource] by Mendelsohn, Bryce A Beleford, Daniah T Abu-El-Haija, Aya Alsaleh, Norah S Rahbeeni, Zuhair Martin, Pierre-Marie Rego, Shannon Huang, Alyssa Capodanno, Gina Shieh, Joseph T Van Ziffle, Jessica Risch, Neil Alkuraya, Fowzan S Slavotinek, Anne M Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	59.	Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. [electronic resource] by Slavotinek, Anne M Mehrotra, Pavni Nazarenko, Irina Tang, Paul Ling-Fung Lao, Richard Cameron, Don Li, Ben Chu, Catherine Chou, Chris Marqueling, Ann L Yahyavi, Mani Cordoro, Kelly Frieden, Ilona Glaser, Tom Prescott, Trine Morren, Marie-Anne Devriendt, Koen Kwok, Pui-yan Petkovich, Martin Desnick, Robert J Producer: 20130705 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	60.	Expansion of phenotype and genotypic data in CRB2-related syndrome. [electronic resource] by Lamont, Ryan E Tan, Wen-Hann Innes, A Micheil Parboosingh, Jillian S Schneidman-Duhovny, Dina Rajkovic, Aleksandar Pappas, John Altschwager, Pablo DeWard, Stephanie Fulton, Anne Gray, Kathryn J Krall, Max Mehta, Lakshmi Rodan, Lance H Saller, Devereux N Steele, Deanna Stein, Deborah Yatsenko, Svetlana A Bernier, François P Slavotinek, Anne M Producer: 20170616 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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