Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Cat Eye Syndrome[original query] |
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22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment. European journal of medical genetics 2010 1 53 (2): 61-5. Lundin Johanna, Söderhäll Cilla, Lundén Lina, Hammarsjö Anna, White Iréne, Schoumans Jacqueline, Läckgren Göran, Kockum Christina Clementson, Nordenskjöld Agne |
Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European journal of medical genetics 2010 1 53 (2): 55-60. Draaken Markus, Reutter Heiko, Schramm Charlotte, Bartels Enrika, Boemers Thomas M, Ebert Anne-Karoline, Rösch Wolfgang, Schröder Annette, Stein Raimund, Moebus Susanne, Stienen Dietlinde, Hoffmann Per, Nöthen Markus M, Ludwig Micha |
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. European journal of human genetics : EJHG 2012 Aug . Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW |
A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot. Molecules (Basel, Switzerland) 2021 9 26 (18): . Cafaro Alessia, Pigliasco Federica, Barco Sebastiano, Penco Federica, Schena Francesca, Caorsi Roberta, Volpi Stefano, Tripodi Gino, Gattorno Marco, Cangemi Giulia |
Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 2024 7 32 (3): 9. Xiali Jiang, Bin Liang, Bilian Chen, Xiaoqing Wu, Yan Wang, Na Lin, Hailong Huang, Liangpu |
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