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Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. [electronic resource] by
- Erez, Ayelet
- Patel, Amina J
- Wang, Xueqing
- Xia, Zhilian
- Bhatt, Samarth S
- Craigen, William
- Cheung, Sau Wai
- Lewis, Richard A
- Fang, Ping
- Davenport, Sandra L H
- Stankiewicz, Pawel
- Lalani, Seema R
Producer: 20091207
In:
Neurogenetics vol. 10
Availability: No items available.
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6.
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. [electronic resource] by
- Shinawi, Marwan
- Schaaf, Christian P
- Bhatt, Samarth S
- Xia, Zhilian
- Patel, Ankita
- Cheung, Sau Wai
- Lanpher, Brendan
- Nagl, Sandra
- Herding, Heinrich Stephan
- Nevinny-Stickel, Claudia
- Immken, LaDonna L
- Patel, Gayle Simpson
- German, Jennifer Ruth
- Beaudet, Arthur L
- Stankiewicz, Pawel
Producer: 20100105
In:
Nature genetics vol. 41
Availability: No items available.
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7.
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. [electronic resource] by
- Vissers, Lisenka E L M
- Bhatt, Samarth S
- Janssen, Irene M
- Xia, Zhilian
- Lalani, Seema R
- Pfundt, Rolph
- Derwinska, Katarzyna
- de Vries, Bert B A
- Gilissen, Christian
- Hoischen, Alexander
- Nesteruk, Monika
- Wisniowiecka-Kowalnik, Barbara
- Smyk, Marta
- Brunner, Han G
- Cheung, Sau Wai
- van Kessel, Ad Geurts
- Veltman, Joris A
- Stankiewicz, Pawel
Producer: 20091109
In:
Human molecular genetics vol. 18
Availability: No items available.
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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. [electronic resource] by
- Maduro, Valerie
- Pusey, Barbara N
- Cherukuri, Praveen F
- Atkins, Paul
- du Souich, Christèle
- Rupps, Rosemarie
- Limbos, Marjolaine
- Adams, David R
- Bhatt, Samarth S
- Eydoux, Patrice
- Links, Amanda E
- Lehman, Anna
- Malicdan, May C
- Mason, Christopher E
- Morimoto, Marie
- Mullikin, James C
- Sear, Andrew
- Van Karnebeek, Clara
- Stankiewicz, Pawel
- Gahl, William A
- Toro, Camilo
- Boerkoel, Cornelius F
Producer: 20171107
In:
Orphanet journal of rare diseases vol. 11
Availability: No items available.
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9.
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Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish. [electronic resource] by
- Reichwald, Kathrin
- Petzold, Andreas
- Koch, Philipp
- Downie, Bryan R
- Hartmann, Nils
- Pietsch, Stefan
- Baumgart, Mario
- Chalopin, Domitille
- Felder, Marius
- Bens, Martin
- Sahm, Arne
- Szafranski, Karol
- Taudien, Stefan
- Groth, Marco
- Arisi, Ivan
- Weise, Anja
- Bhatt, Samarth S
- Sharma, Virag
- Kraus, Johann M
- Schmid, Florian
- Priebe, Steffen
- Liehr, Thomas
- Görlach, Matthias
- Than, Manuel E
- Hiller, Michael
- Kestler, Hans A
- Volff, Jean-Nicolas
- Schartl, Manfred
- Cellerino, Alessandro
- Englert, Christoph
- Platzer, Matthias
Producer: 20160405
In:
Cell vol. 163
Availability: No items available.
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Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. [electronic resource] by
- Stankiewicz, Paweł
- Sen, Partha
- Bhatt, Samarth S
- Storer, Mekayla
- Xia, Zhilian
- Bejjani, Bassem A
- Ou, Zhishuo
- Wiszniewska, Joanna
- Driscoll, Daniel J
- Maisenbacher, Melissa K
- Bolivar, Juan
- Bauer, Mislen
- Zackai, Elaine H
- McDonald-McGinn, Donna
- Nowaczyk, Małgorzata M J
- Murray, Mitzi
- Hustead, Virginia
- Mascotti, Kristin
- Schultz, Regina
- Hallam, Lavinia
- McRae, Duncan
- Nicholson, Andrew G
- Newbury, Robert
- Durham-O'Donnell, Jane
- Knight, Gail
- Kini, Usha
- Shaikh, Tamim H
- Martin, Vicki
- Tyreman, Matthew
- Simonic, Ingrid
- Willatt, Lionel
- Paterson, Joan
- Mehta, Sarju
- Rajan, Diana
- Fitzgerald, Tomas
- Gribble, Susan
- Prigmore, Elena
- Patel, Ankita
- Shaffer, Lisa G
- Carter, Nigel P
- Cheung, Sau Wai
- Langston, Claire
- Shaw-Smith, Charles
Producer: 20090702
In:
American journal of human genetics vol. 84
Availability: No items available.
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11.
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. [electronic resource] by
- Stankiewicz, Paweł
- Kulkarni, Shashikant
- Dharmadhikari, Avinash V
- Sampath, Srirangan
- Bhatt, Samarth S
- Shaikh, Tamim H
- Xia, Zhilian
- Pursley, Amber N
- Cooper, M Lance
- Shinawi, Marwan
- Paciorkowski, Alex R
- Grange, Dorothy K
- Noetzel, Michael J
- Saunders, Scott
- Simons, Paul
- Summar, Marshall
- Lee, Brendan
- Scaglia, Fernando
- Fellmann, Florence
- Martinet, Danielle
- Beckmann, Jacques S
- Asamoah, Alexander
- Platky, Kathryn
- Sparks, Susan
- Martin, Ann S
- Madan-Khetarpal, Suneeta
- Hoover, Jacqueline
- Medne, Livija
- Bonnemann, Carsten G
- Moeschler, John B
- Vallee, Stephanie E
- Parikh, Sumit
- Irwin, Polly
- Dalzell, Victoria P
- Smith, Wendy E
- Banks, Valerie C
- Flannery, David B
- Lovell, Carolyn M
- Bellus, Gary A
- Golden-Grant, Kathryn
- Gorski, Jerome L
- Kussmann, Jennifer L
- McGregor, Tracy L
- Hamid, Rizwan
- Pfotenhauer, Jean
- Ballif, Blake C
- Shaw, Chad A
- Kang, Sung-Hae L
- Bacino, Carlos A
- Patel, Ankita
- Rosenfeld, Jill A
- Cheung, Sau Wai
- Shaffer, Lisa G
Producer: 20120423
In:
Human mutation vol. 33
Availability: No items available.
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