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Journal Article
by Oei, Ling and Hsu, Yi-Hsiang and Styrkarsdottir, Unnur and Eussen, Bert H and de Klein, Annelies and Peters, Marjolein J and Halldorsson, Bjarni and Liu, Ching-Ti and Alonso, Nerea and Kaptoge, Stephen K and Thorleifsson, Gudmar and Hallmans, Göran and Hocking, Lynne J and Husted, Lise Bjerre and Jameson, Karen A and Kruk, Marcin and Lewis, Joshua R and Patel, Millan S and Scollen, Serena and Svensson, Olle and Trompet, Stella and van Schoor, Natasja M and Zhu, Kun and Buckley, Brendan M and Cooper, Cyrus and Ford, Ian and Goltzman, David and González-Macías, Jesús and Langdahl, Bente Lomholt and Leslie, William D and Lips, Paul and Lorenc, Roman S and Olmos, José M and Pettersson-Kymmer, Ulrika and Reid, David M and Riancho, José A and Slagboom, P Eline and Garcia-Ibarbia, Carmen and Ingvarsson, Thorvaldur and Johannsdottir, Hrefna and Luben, Robert and Medina-Gómez, Carolina and Arp, Pascal and Nandakumar, Kannabiran and Palsson, Stefan Th and Sigurdsson, Gunnar and van Meurs, Joyce B J and Zhou, Yanhua and Hofman, Albert and Jukema, J Wouter and Pols, Huibert A P and Prince, Richard L and Cupples, L Adrienne and Marshall, Christian R and Pinto, Dalila and Sato, Daisuke and Scherer, Stephen W and Reeve, Jonathan and Thorsteinsdottir, Unnur and Karasik, David and Richards, J Brent and Stefansson, Kari and Uitterlinden, André G and Ralston, Stuart H and Ioannidis, John P A and Kiel, Douglas P and Rivadeneira, Fernando and Estrada, Karol and Medicinska fakulteten and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Institutionen för farmakologi och klinisk neurovetenskap and Ortopedi and Klinisk farmakologi and Enheten för biobanksforskning and Näringsforskning and Institutionen för kirurgisk och perioperativ vetenskap
Journal of Medical Genetics, ISSN 0022-2593, 02/2014, Volume 51, Issue 2, pp. 122 - 131
Journal Article
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2016, Volume 101, Issue 2, pp. 453 - 460
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 9, pp. 1077 - 1084
Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) is a relatively common birth defect often associated with additional congenital anomalies... 
triple X syndrome | esophageal atresia | SHOX duplication | VACTERL association | tracheoesophageal fistula | BIOCHEMISTRY & MOLECULAR BIOLOGY | SHOX GENE | INACTIVATION | MALFORMATIONS | DOWNSTREAM | 47,XXX | GENETICS & HEREDITY | IDIOPATHIC SHORT STATURE | OF-THE-LITERATURE | EXPRESSION | ANEUPLOIDIES | Limb Deformities, Congenital - genetics | Humans | Male | Genetic Loci | Sex Chromosome Disorders of Sex Development - genetics | Spine - abnormalities | Heart Defects, Congenital - genetics | Sex Chromosome Aberrations | Adult | Female | Esophageal Atresia - genetics | Esophageal Atresia - diagnosis | Trachea - abnormalities | Chromosomes, Human, X - genetics | Transcription Factors - genetics | Esophagus - abnormalities | Homeodomain Proteins - genetics | Short Stature Homeobox Protein | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Sex Chromosome Disorders of Sex Development - diagnosis | Trisomy - diagnosis | Trisomy - genetics | Kidney - abnormalities | Chromosome Aberrations | Heart Defects, Congenital - diagnosis | Polymorphism, Single Nucleotide | Karyotype | X Chromosome Inactivation | Vertebrae | Congenital defects | Copy number | Genomics | Karyotypes | Fistulae | Case reports | Birth defects | Genomes | Heredity | Single-nucleotide polymorphism | Birth | Gene expression | Patients | Gestational age | Esophagus | Homeobox | X Chromosomes | Surgery | Genetics | Genetic factors | Children | Chromosomes | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article