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De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, Wendy D., Dafou, Dimitra, McEntagart, Meriel, Woollard, Wesley J., Elmslie, Frances V., Holder-Espinasse, Muriel, Irving, Melita, Saggar, Anand K., Smithson, Sarah, Trembath, Richard C., Deshpande, Charu, Simpson, Michael A.
Published in American journal of human genetics (10.08.2012)
Published in American journal of human genetics (10.08.2012)
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Journal Article
X-linked cataract and Nance-Horan syndrome are allelic disorders
Coccia, Margherita, Brooks, Simon P., Webb, Tom R., Christodoulou, Katja, Wozniak, Izabella O., Murday, Victoria, Balicki, Martha, Yee, Harris A., Wangensteen, Teresia, Riise, Ruth, Saggar, Anand K., Park, Soo-Mi, Kanuga, Naheed, Francis, Peter J., Maher, Eamonn R., Moore, Anthony T., Russell-Eggitt, Isabelle M., Hardcastle, Alison J.
Published in Human molecular genetics (15.07.2009)
Published in Human molecular genetics (15.07.2009)
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Journal Article
Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype
Rossetti, Sandro, Chauveau, Dominique, Kubly, Vickie, Slezak, Jeffrey M, Saggar-Malik, Anand K, Pei, York, Ong, Albert CM, Stewart, Fiona, Watson, Michael L, Bergstralh, Erik J, Winearls, Christopher G, Torres, Vicente E, Harris, Peter C
Published in The Lancet (British edition) (28.06.2003)
Published in The Lancet (British edition) (28.06.2003)
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Journal Article
Location of mutations within the PKD2 gene influences clinical outcome
Hateboer, Nick, Veldhuisen, Barbera, Peters, Dorien, Breuning, Martijn H., San-Millán, José L., Bogdanova, Nadja, Coto, Eliecer, Dijk, Marjan A.V., Afzal, Ali R., Jeffery, Steve, Saggar-Malik, Anand K., Torra, Roser, Dimitrakov, Dimitar, Martinez, Isabel, de Castro, Saturnino Sanz, Krawczak, Michael, Ravine, David
Published in Kidney international (01.04.2000)
Published in Kidney international (01.04.2000)
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Journal Article
Conference Proceeding
Comparison of phenotypes of polycystic kidney disease types 1 and 2
Hateboer, Nick, v Dijk, Marjan A, Bogdanova, Nadja, Coto, Eliecer, Saggar-Malik, Anand K, Millan, Jose L San, Torra, Roser, Breuning, Martijn, Ravine, David
Published in The Lancet (British edition) (01.01.1999)
Published in The Lancet (British edition) (01.01.1999)
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Journal Article
Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
Whittock, Neil V., Izatt, Louise, Mann, Anuska, Homfray, Tessa, Bennett, Christopher, Mansour, Sahar, Hurst, Jane, Fryer, Alan, Saggar, Anand K., Barwell, Julian G., Ellard, Sian, Clayton, Peter T.
Published in Journal of investigative dermatology (01.10.2003)
Published in Journal of investigative dermatology (01.10.2003)
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Journal Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Journal Article
Osteogenesis imperfecta type VI presenting as suspected physical abuse -- a report of two cases
Sithambaram, Sivagamy, Bishop, Nick, Shankar, Lata, Offiah, Amaka C, Pollitt, Rebecca C, Balasubramanian, Meena, Saggar, Anand K, Arundel, Paul
Published in Bone Abstracts (11.07.2017)
Published in Bone Abstracts (11.07.2017)
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Journal Article