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	1.	Anti-MuSK myasthenia gravis presenting with purely ocular findings. [electronic resource] by Caress, James B Hunt, Christopher H Batish, Sat Dev Producer: 20050630 In: Archives of neurology vol. 62 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Technical standards and guidelines for spinal muscular atrophy testing. [electronic resource] by Prior, Thomas W Nagan, Narasimhan Sugarman, Elaine A Batish, Sat Dev Braastad, Corey Producer: 20111213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease. [electronic resource] by Gonzaga-Jauregui, Claudia Zhang, Feng Towne, Charles F Batish, Sat Dev Lupski, James R Producer: 20110118 In: Neurogenetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. [electronic resource] by Zhang, Feng Khajavi, Mehrdad Connolly, Anne M Towne, Charles F Batish, Sat Dev Lupski, James R Producer: 20090717 In: Nature genetics vol. 41 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Novel MPZ mutations and congenital hypomyelinating neuropathy. [electronic resource] by McMillan, Hugh J Santagata, Sandro Shapiro, Frederic Batish, Sat Dev Couchon, Libby Donnelly, Stephen Kang, Peter B Producer: 20110121 In: Neuromuscular disorders : NMD vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	GST genotype may modify clinical phenotype in patients with Fanconi anaemia. [electronic resource] by Davies, Stella M Radloff, Gretchen A DeFor, Todd E Levran, Orna Batish, Sat Dev Hanenberg, Helmut Auerbach, Arleen D Producer: 20051115 In: British journal of haematology vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes? [electronic resource] by Majidi, Shideh Fouts, Alexandra Pyle, Laura Chambers, Christina Armstrong, Taylor Wang, Zhenyuan Batish, Sat Dev Klingensmith, Georgeanna Steck, Andrea K Producer: 20181121 In: Diabetes technology & therapeutics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	A 20-year perspective on the International Fanconi Anemia Registry (IFAR). [electronic resource] by Kutler, David I Singh, Bhuvanesh Satagopan, Jaya Batish, Sat Dev Berwick, Marianne Giampietro, Philip F Hanenberg, Helmut Auerbach, Arleen D Producer: 20030313 In: Blood vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. [electronic resource] by Boone, Philip M Liu, Pengfei Zhang, Feng Carvalho, Claudia M B Towne, Charles F Batish, Sat Dev Lupski, James R Producer: 20110928 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Aprataxin (APTX) gene mutations resembling multiple system atrophy. [electronic resource] by Baba, Yasuhiko Uitti, Ryan J Boylan, Kevin B Uehara, Yoshinari Yamada, Tatsuo Farrer, Matthew J Couchon, Elizabeth Batish, Sat Dev Wszolek, Zbigniew K Producer: 20070626 In: Parkinsonism & related disorders vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	High incidence of head and neck squamous cell carcinoma in patients with Fanconi anemia. [electronic resource] by Kutler, David I Auerbach, Arleen D Satagopan, Jaya Giampietro, Philip F Batish, Sat Dev Huvos, Andrew G Goberdhan, Andy Shah, Jatin P Singh, Bhuvanesh Producer: 20030129 In: Archives of otolaryngology--head & neck surgery vol. 129 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Characteristics of maturity onset diabetes of the young in a large diabetes center. [electronic resource] by Chambers, Christina Fouts, Alexandra Dong, Fran Colclough, Kevin Wang, Zhenyuan Batish, Sat Dev Jaremko, Malgorzata Ellard, Sian Hattersley, Andrew T Klingensmith, Georgeanna Steck, Andrea K Producer: 20170327 In: Pediatric diabetes vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study. [electronic resource] by Auerbach, Arleen D Greenbaum, Jason Pujara, Kanan Batish, Sat Dev Bitencourt, Marco A Kokemohr, Indira Schneider, Hildegard Lobitzc, Stephan Pasquini, Ricardo Giampietro, Philip F Hanenberg, Helmut Levran, Orna Producer: 20030326 In: Human mutation vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients. [electronic resource] by Chandra, Saurabh Levran, Orna Jurickova, Ingrid Maas, Chiel Kapur, Rick Schindler, Detlev Henry, Rashida Milton, Kelly Batish, Sat Dev Cancelas, Jose A Hanenberg, Helmut Auerbach, Arleen D Williams, David A Producer: 20060106 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. [electronic resource] by Wagner, John E Tolar, Jakub Levran, Orna Scholl, Thomas Deffenbaugh, Amie Satagopan, Jaya Ben-Porat, Leah Mah, Katherine Batish, Sat Dev Kutler, David I MacMillan, Margaret L Hanenberg, Helmut Auerbach, Arleen D Producer: 20040527 In: Blood vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Phenotypic correction of primary Fanconi anemia T cells with retroviral vectors as a diagnostic tool. [electronic resource] by Hanenberg, Helmut Batish, Sat Dev Pollok, Karen E Vieten, Lydia Verlander, Peter C Leurs, Cordula Cooper, Ryan J Göttsche, Kerstin Haneline, Laura Clapp, D Wade Lobitz, Stephan Williams, David A Auerbach, Arleen D Producer: 20020614 In: Experimental hematology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. [electronic resource] by Levran, Orna Attwooll, Claire Henry, Rashida T Milton, Kelly L Neveling, Kornelia Rio, Paula Batish, Sat Dev Kalb, Reinhard Velleuer, Eunike Barral, Sandra Ott, Jurg Petrini, John Schindler, Detlev Hanenberg, Helmut Auerbach, Arleen D Producer: 20050929 In: Nature genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. [electronic resource] by Offit, Kenneth Levran, Orna Mullaney, Brian Mah, Katherine Nafa, Khedoudja Batish, Sat Dev Diotti, Raffaella Schneider, Hildegard Deffenbaugh, Amie Scholl, Thomas Proud, Virginia K Robson, Mark Norton, Larry Ellis, Nathan Hanenberg, Helmut Auerbach, Arleen D Producer: 20031029 In: Journal of the National Cancer Institute vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. [electronic resource] by Reid, Sarah Schindler, Detlev Hanenberg, Helmut Barker, Karen Hanks, Sandra Kalb, Reinhard Neveling, Kornelia Kelly, Patrick Seal, Sheila Freund, Marcel Wurm, Melanie Batish, Sat Dev Lach, Francis P Yetgin, Sevgi Neitzel, Heidemarie Ariffin, Hany Tischkowitz, Marc Mathew, Christopher G Auerbach, Arleen D Rahman, Nazneen Producer: 20070423 In: Nature genetics vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	20.	Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. [electronic resource] by Hoogeveen-Westerveld, Marianne Ekong, Rosemary Povey, Sue Karbassi, Izabela Batish, Sat Dev den Dunnen, Johan T van Eeghen, Agnies Thiele, Elizabeth Mayer, Karin Dies, Kira Wen, Li Thompson, Catherine Sparagana, Steven P Davies, Peter Aalfs, Cora van den Ouweland, Ans Halley, Dicky Nellist, Mark Producer: 20120608 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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