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	61.	SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins. [electronic resource] by Mannini, Linda Cucco, Francesco Quarantotti, Valentina Amato, Clelia Tinti, Mara Tana, Luigi Frattini, Annalisa Delia, Domenico Krantz, Ian D Jessberger, Rolf Musio, Antonio Producer: 20161213 In: Scientific reports vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	62.	Intracranial vascular abnormalities in patients with Alagille syndrome. [electronic resource] by Emerick, Karan M Krantz, Ian D Kamath, Binita M Darling, Crystal Burrowes, Delilah M Spinner, Nancy B Whitington, Peter F Piccoli, David A Producer: 20051110 In: Journal of pediatric gastroenterology and nutrition vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. [electronic resource] by DeScipio, Cheryl Spinner, Nancy B Kaur, Maninder Yaeger, Dinah Conlin, Laura K Ambrosini, Anthony Hu, Sufen Shan, Simei Krantz, Ian D Riethman, Harold Producer: 20080416 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)
	64.	Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey. [electronic resource] by Rohatgi, Sarika Clark, Dinah Kline, Antonie D Jackson, Laird G Pie, Juan Siu, Victoria Ramos, Feliciano J Krantz, Ian D Deardorff, Matthew A Producer: 20100929 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)
	65.	Facial features in Alagille syndrome: specific or cholestasis facies? [electronic resource] by Kamath, Binita M Loomes, Kathleen M Oakey, Rebecca J Emerick, Karan E M Conversano, Tracy Spinner, Nancy B Piccoli, David A Krantz, Ian D Producer: 20030311 In: American journal of medical genetics vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia. [electronic resource] by Tsai, Ellen A Grochowski, Christopher M Falsey, Alexandra M Rajagopalan, Ramakrishnan Wendel, Danielle Devoto, Marcella Krantz, Ian D Loomes, Kathleen M Spinner, Nancy B Producer: 20160301 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies. [electronic resource] by Clark, Dinah M Sherer, Ilana Deardorff, Matthew A Byrne, Janice L B Loomes, Kathleen M Nowaczyk, Malgorzata J M Jackson, Laird G Krantz, Ian D Producer: 20121105 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)
	68.	Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo. [electronic resource] by Cukrov, Dubravka Newman, Trent A C Leask, Megan Leeke, Bryony Sarogni, Patrizia Patimo, Alessandra Kline, Antonie D Krantz, Ian D Horsfield, Julia A Musio, Antonio Producer: 20190308 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis. [electronic resource] by Chatfield, Kathryn C Schrier, Samantha A Li, Jennifer Clark, Dinah Kaur, Maninder Kline, Antonie D Deardorff, Matthew A Jackson, Laird S Goldmuntz, Elizabeth Krantz, Ian D Producer: 20130219 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)
	70.	Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. [electronic resource] by Izumi, Kosuke Conlin, Laura K Berrodin, Donna Fincher, Christopher Wilkens, Alisha Haldeman-Englert, Chad Saitta, Sulagna C Zackai, Elaine H Spinner, Nancy B Krantz, Ian D Producer: 20130807 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)
	71.	FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. [electronic resource] by Aldinger, Kimberly A Lehmann, Ordan J Hudgins, Louanne Chizhikov, Victor V Bassuk, Alexander G Ades, Lesley C Krantz, Ian D Dobyns, William B Millen, Kathleen J Producer: 20090928 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	72.	NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation. [electronic resource] by Pehlivan, Davut Hullings, Melanie Carvalho, Claudia M B Gonzaga-Jauregui, Claudia G Loy, Elizabeth Jackson, Laird G Krantz, Ian D Deardorff, Matthew A Lupski, James R Producer: 20120709 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	73.	SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss. [electronic resource] by Buchert, Rebecca Nesbitt, Addie I Tawamie, Hasan Krantz, Ian D Medne, Livija Helbig, Ingo Matalon, Dena R Reis, André Santani, Avni Sticht, Heinrich Abou Jamra, Rami Publication details: Orphanet journal of rare diseases Sep 2016 In: Orphanet journal of rare diseases vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	74.	Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. [electronic resource] by Masino, Aaron J Dechene, Elizabeth T Dulik, Matthew C Wilkens, Alisha Spinner, Nancy B Krantz, Ian D Pennington, Jeffrey W Robinson, Peter N White, Peter S Producer: 20141012 In: BMC bioinformatics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	75.	NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. [electronic resource] by Gillis, Lynette A McCallum, Jennifer Kaur, Maninder DeScipio, Cheryl Yaeger, Dinah Mariani, Allison Kline, Antonie D Li, Hui-hua Devoto, Marcella Jackson, Laird G Krantz, Ian D Producer: 20041216 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)
	76.	Renal anomalies in Alagille syndrome: a disease-defining feature. [electronic resource] by Kamath, Binita M Podkameni, Gisele Hutchinson, Anne L Leonard, Laura D Gerfen, Jennifer Krantz, Ian D Piccoli, David A Spinner, Nancy B Loomes, Kathleen M Meyers, Kevin Producer: 20130620 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)
	77.	Mutations in the chromatin-associated protein ATRX. [electronic resource] by Gibbons, Richard J Wada, Takahito Fisher, Christopher A Malik, Nicola Mitson, Matthew J Steensma, David P Fryer, Alan Goudie, David R Krantz, Ian D Traeger-Synodinos, Joanne Producer: 20080715 In: Human mutation vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	78.	Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature. [electronic resource] by Schrier, Samantha A Sherer, Ilana Deardorff, Matthew A Clark, Dinah Audette, Lynn Gillis, Lynette Kline, Antonie D Ernst, Linda Loomes, Kathleen Krantz, Ian D Jackson, Laird G Producer: 20120430 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)
	79.	Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. [electronic resource] by Conlin, Laura K Thiel, Brian D Bonnemann, Carsten G Medne, Livija Ernst, Linda M Zackai, Elaine H Deardorff, Matthew A Krantz, Ian D Hakonarson, Hakon Spinner, Nancy B Producer: 20100527 In: Human molecular genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	80.	Characterization of limb differences in children with Cornelia de Lange Syndrome. [electronic resource] by Mehta, Devanshi Vergano, Samantha A Schrier Deardorff, Matthew Aggarwal, Sarika Barot, Akash Johnson, Drew M Miller, Nathan F Noon, Sarah E Kaur, Maninder Jackson, Laird Krantz, Ian D Producer: 20171003 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 172 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 143 results.